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Ovarian follicles forms typical ‘fern pattern’ 130 mg malegra dxt amex erectile dysfunction at the age of 17, which disappears follow- are present in their various stages of development ing ovulation generic malegra dxt 130mg line impotence thesaurus. The stroma of the ovary is present in between the fol- in the initiation of parturition. D and C: Dilation of cervix is performed routinely in gynecological practice to obtain endometrial tissue from cervix or body of the uterus Medulla of Ovary for diagnosis of various uterine pathologies. This is called dilatation and the inner zone of the ovary forms the medulla that con- curettage (D and C). D and C are also performed therapeutically for tains different types of interstitial and connective tis- treatment of few uterine diseases. Blood vessels and lymphatics enter the ovary the uterine content (conceptus) for abortion. Functions of Ovary: Fallopian Tubes Ovary like testis performs many functions: Two fallopian tubes (also called oviducts) arise from both 1. Chapter 68: Female Reproductive System: Functional Anatomy, Oogenesis and Follicular Development 607 Primary Oocytes the oocytes undergo two meiotic divisions (the meiotic cycle) at different stages of development to produce a haploid ovum. First Meiotic Division the first meiotic division starts in primary oocytes during fetal life, which occurs at about 8th week of pregnancy is arrested in prophase. However, the first meiotic division is not completed in fetal life, not even till puberty; in fact, it is completed just prior to ovulation. Therefore, the life span of a primary oocyte can be up to 50 years, as ovulation can continue up to this age. The suspension of oocyte division in prophase for such a long period depends on the internal hormonal Fig. The stroma of ovary has two parts: environment provided by the surrounding supporting cortex and medulla. Note that the cortex contains ovarian follicle in different stages of development. Secretion of female sex hormones and peptide hor- uterine life so that only about 1 million primary oocytes mones. By the time of puberty about the primary function of ovary is to develop ovarian 200,000 and by the age of 30 only about 26,000 oocytes follicles and release ovum at the time of ovulation, and to remain in the ovary. At menopause, ovaries are virtually secrete steroid hormones that control various reproduc- devoid of oocytes. During a woman’s life, only about 400 oocytes are ovulated and the other oocytes degenerate. A major difference in male and female gametogen- Unlike spermatogenesis that starts at puberty and con- esis is that the process of spermatogenesis is a con- tinues throughout life, the process of oogenesis starts in tinuous phenomenon and the production of sperm is fetal life and ceases at menopause. Also, the process of unlimited, whereas primary oocytes degenerate with development of each spermatocyte is completed in few age (Application Box 68. As new oogonia cannot be manufactured in ovary, the intrauterine life is completed with ovulation that occurs oocytes totally disappear at the time of menopause. The stages of development of oocytes occur in three an oocyte may be as old as 50 years. The oocyte that ovulates at about stages: Oogonium becoming primary oocyte, primary 40 years of age is about 25 years older than the oocyte that ovulates at the age of 15. This one of the important factors that contribute to the oocyte converted to secondary oocyte, and finally second- anomalies in children born to older woman as the aged-eggs oocyte ary oocyte developing to mature ovum. Oogonia Becoming Primary Oocyte Primary Oocyte Converted to Oogonia Secondary Oocyte the primordial germ cells (oogonia) migrate from the yolk sac of embryo to the genital ridge at about 6th week of In fetus, oogonia develop into primary oocyte, which gestation. Thus, all eggs present at birth are primary oocytes 608 Section 7: Reproductive System Fig. Note, first meiotic division of oocyte begins during fetal life and completes prior to ovulation, whereas second meiotic division completes at the time of fertilization. The primary oocyte that is destined for ovulation is called follicular growth or folliculogenesis. This division results in production of two structures: Thus, a single ovarian follicle may develop from fetal one is the daughter cell, called secondary oocyte con- life till menopause. However, the cytoplasmic division is grossly unequal nant follicle finally matures and releases ovum, in this process in which the secondary oocyte retains whereas rest others undergo degeneration (atresia). Thus, the polar body becomes com- atresia during the reproductive life of a woman. Stages of Follicular Development Secondary Oocyte Forming Ovum Folliculogenesis occurs in four stages: Stages 1– 4 (Figs. The second meiotic division occurs in the secondary oocyte after ovulation, and is arrested in metaphase. Thus, meiotic cycle is the ovarian follicle, also called Graafian follicle begins as a completed only on fertilization. The primordial follicle consists of a primary oocyte ing 23 chromosomes and the second polar body are at the center surrounded by a layer of spindle cells formed (Fig. Chapter 68: Female Reproductive System: Functional Anatomy, Oogenesis and Follicular Development 609 Figs. The oocyte is maintained in prophase of its first mei- division is arrested in prophase. Stage 4 (Tertiary Follicular Stage) Stage 2 (Primary Follicular Stage) This is the final stage of follicular development. The size of oocyte In this stage, the spindle cell layer surrounding the base- increases to about 80-140 µm. A type of glassy material consisting of mucopolysac- theca interna and outer theca externa. Theca interna cells multiply to form multiple cell lay- thick layer between the oocyte and the granulosa cell ers and become steroidogenic. The primordial follicle becomes primary follicle at mechanical support to the follicle from outside. The prophase of first meiotic division of oocyte is whereas granulosa cells remain avascular as blood maintained. A long with the expansion of theca cell layer, a fluid- Stage 3 (Secondary Follicular Stage) filled space is created in the midst of granulosa cells, the primary follicle becomes secondary follicle in this called as antrum (Fig. Therefore, the follicle stage during which the granulosa cells divide and form in this stage is also called early antral follicle and the several layers of cells around the oocyte. All these development occur slowly in the prepubertal This is the most rapid stage of development. After 5–7 days of onset of menses, a single follicle losa cells are highly steroidogenic. The size of the antrum and the amount of antral fluid slowly resulting in release are increased significantly. This pushes the oocyte to of oocyte from the follicle, the process called ovulation. The antral fluid contains many hormones such as results in functional ovum (fertilized egg). It also contains plasminogen activator, mucopolysac- Corpus Luteum Formation charide, proteins, electrolytes, glycosaminoglycans and Luteinization proteoglycans.

A total of 46% of patients with complex partial double-blind treatment phase and a 4-week termination period 130 mg malegra dxt sale lovastatin causes erectile dysfunction. Tiagabine was signifcantly more efective than placebo in parallel-group cheap malegra dxt 130 mg free shipping erectile dysfunction diabetes reversible, double-blind, add-on studies in which tiagabine was patients with simple partial seizures with respect to the proportion compared with placebo in patients with refractory focal seizures. The patients then remained on a fxed dose for 12 weeks monly with tiagabine than with placebo in the three placebo-controlled of double-blind treatment. Median decreases in 4-week complex parallel group add-on trials in focal epilepsy [35,36,37]. Overall, 20% and 29% (n = 275), n (%) (n = 494), n (%) of patients in the 32-mg and 56-mg groups had a 50% or greater Dizziness 41 (15) 131 (27)** reduction in the frequency of complex partial seizures, compared Asthenia 39 (14) 99 (20)* with 4% in the placebo group (P = 0. During the frst month of treatment, doses were in- concentration/attention creased weekly to 32 mg/day. The treatment groups were placebo, Depression 2 (<1) 17 (3)* 16 mg tiagabine twice daily and 8 mg tiagabine four times daily The median changes in 4-week complex partial seizure rates were –1. Reproduced by permission of John Libbey the 8 mg four times daily group, versus –0. Tiagabine 637 Other randomized adjunctive therapy trials following regulatory approval [45]. Two hundred and ninety-two A multicentre, open-label, randomized, parallel-group study com- patients (39 children) were enrolled to be treated long term with pared the efcacy and tolerability of three times daily and twice dai- tiagabine. Seizure types were focal onset (86%), generalized onset ly dosing of tiagabine as adjunctive therapy in refractory focal sei- (12%), both focal and generalized onset (0. A total of 347 patients were randomized and treated (175 sociated with Lennox–Gastaut syndrome (2%). Tiagabine dose was increased were seizure freedom in 5% of patients, ≥75% reduction in 12% of stepwise during a 12-week fxed-schedule titration period to a target patients and ≥50% reduction in 23% of patients. Patients were then followed for a further 12-week of seizures was reported in 17% of patients and new seizure types fexible-dose continuation phase. The proportion of responders (patients showing at least Tiagabine has been studied as adjunctive therapy in over 200 paedi- a 50% decrease in all seizure frequency from baseline) was similar atric patients. A 4-month, single-blind study carried out at two cen- for both groups (44% for twice daily dosing and 48% for three times tres in Denmark and one centre in France evaluated the response to daily dosing) during the last 8 weeks of treatment. Tiagabine appeared to reduce seizures more Another multicentre trial was performed to determine whether in focal epilepsies than in generalized epilepsies. In comparison, 13 out with inadequately controlled complex partial seizures were rand- of 22 children with seven diferent generalized epilepsy syndromes omized to add-on therapy with tiagabine or phenytoin (if previous- entered the fourth dosing period, with a median change in seizure ly receiving carbamazepine) or tiagabine or carbamazepine (if pre- rate of 0%. Among generalized seizures, tonic seizures and atypical viously receiving phenytoin), and were titrated to an optimal dose absences improved to the greatest extent, with median percentage under double-blind conditions [40]. Tiagabine (n = 170) showed reductions in weekly seizure rate of 77% and 63%, respectively. Altogether 103 children were ran- domized to placebo and 108 children to tiagabine. The age range Other studies in (predominantly) adult patients with varied between 2 and 11 years. The 7-week titration period was focal epilepsy followed by a 12-week fxed-dose period. The initial dose of tiaga- In six long-term open-label trials, more than half of 2248 patients bine was 0. Daily dosages in long-term studies were between 24 median seizure reduction was 16% in the placebo group and 25% and 60 mg in the majority of patients, and mean and median doses in the tiagabine group. However, up to 15% of patients group had a 50% or greater reduction in seizure frequency com- received a dose between 80 and 120 mg/day afer their frst year of pared with 19% in the placebo group (P = 0. Of the 140 evaluable patients from the long- als required for drug registration and more closely mimic routine term follow-up, 10 were seizure-free with tiagabine add-on thera- clinical practice. Tree such studies in patients with refractory focal py and 13 achieved seizure freedom with tiagabine monotherapy epilepsy have been conducted in Germany, Poland, Spain and the for periods ranging from 9 to 109 weeks. All of these studies have a longer follow-up period or monotherapy durations were in patients with recent enrolment than the pivotal studies, and together included considerably more dates at the time of the report. The dose range was from 4 to 66 mg/ patients than the studies submitted in the registration dossier. The maintenance dose was titrated individually according Effcacy as monotherapy to the product’s labelling. The average dose was 30 mg/day (range The efcacy of tiagabine monotherapy was frst assessed in a 5–90 mg). The proportion of patients with at least 50% improve- double-blind parallel-group 29-week study, which compared ment in seizure frequency varied from 41% to 61%, and 8–22% of 6 mg/day with 36 mg/day tiagabine in 198 patients with refractory patients became seizure-free. According of 15 epilepsy centres evaluated outcomes of tiagabine therapy to the study design, patients were required to exit the trial when 638 Chapter 49 predefned criteria for seizure deterioration were met. Altogether, placebo included asthenia (lack of energy), nervousness, tremor, 33% of the patients on the low dose completed the assessment pe- concentration difculties, depressed mood and language problems riod, compared with 47% of those taking the higher dose. However, a higher proportion of patients in the 36 mg/day of emergence of adverse efects during the fxed-dose period [31]. Again, the majority of tiagabine-treated patients discon- The second double-blind study was a randomized comparison tinued during titration and discontinuation rates for placebo and of slow versus fast switch to tiagabine monotherapy in 40 patients tiagabine were similar during the fxed-dose period. This suggests with focal epilepsy uncontrolled by monotherapy with another that tiagabine should be titrated slowly. When the 40 patients were switched to tiagabine monotherapy in either the tolerability of three times daily and twice daily dosing of tiagabine double-blind or open-label drug-switching schemes. The results of as adjunctive therapy in refractory focal seizures was evaluated this trial suggest that up-titration starting at 5 mg/day with weekly [39], the incidence of adverse efects was similar between treatment increments of 5 mg/day should be recommended in clinical prac- groups but adverse efects seemed to be more severe in the twice tice. The retention rate in the study for 12 weeks on tiagabine mon- daily dosing group, and more patients in the three times daily group otherapy was 63% (25 out of 40 patients) and 48% (19 out of 40 could complete the study. The initial target dose for tiagabine mono- Based on these studies, it is recommended that to minimize ad- therapy was 10 mg twice daily, but in the open-label phase tiagabine verse efects tiagabine should be given initially twice a day, with a dose could be adjusted up or down according to the clinical judge- change to three times daily dosing when dosages above 30 mg/day ment of the investigator up to a maximum daily dose of 70 mg. Tiagabine should always be taken with food to avoid rap- median dose was 20 mg/day, with a range from 7. Somno- A third monotherapy trial compared the efcacy of tiagabine lence and drowsiness were not seen more frequently in tiagabine with carbamazepine according to a double-blind, randomized patients than in patients receiving placebo. During the 44-week assessment period the dose Tere has been concern that tiagabine may be associated with an could be adjusted within the ranges of 10–20 mg/day for tiagabine increased incidence of psychosis, particularly with rapid titration. Both treatments were ad- Evaluation of psychosis-related adverse events showed there was ministered twice daily. The study, which has only been published no excess risk of this disorder attributable to tiagabine beyond in abstract form, showed a signifcant diference between the study what would be expected in a population with difcult-to-control groups, in favour of carbamazepine, with regard to ‘time to meet- focal seizures. The proportion of pa- trials the proportion of patients with depression was signifcantly tients who completed the assessment period either seizure-free or higher in those receiving adjunctive therapy with tiagabine than with a single seizure was 41% (77 out of 144 patients) in the tiaga- in those receiving placebo (5% versus 2%) [31]. Because of this bine group and 53% (77 out of 144 patients) in the carbamazepine concern, if there is a history of behavioural problems or depres- group (P <0. It has been suggested that the inferior efcacy of sion, alternative treatments should be considered and, if a deci- tiagabine compared with carbamazepine in this trial might have sion is still made to use tiagabine, treatment should be initiated been due to the relatively low maximum dose of tiagabine that was at a low initial dose under close supervision, as there may be an allowed.

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Note the obstructed gliding of superficial tendon fibers (arrowhead) against the thickened retinaculum purchase 130mg malegra dxt otc erectile dysfunction medications side effects. A: Tenosynovitis of the abductor pollicis longus and the extensor pollicis brevis in a patient with de Quervain disease order malegra dxt 130mg with visa erectile dysfunction jogging. Note the large, homogeneously anechoic collection of synovial fluid with marked tendon sheath widening. The synovial fluid accumulation dislocates extensor tendons, thus allowing a careful assessment of their shape and profile. Longitudinal ultrasound image of the radial aspect of the left dorsal wrist showing significant thickening of the abductor pollicis longus tendon sheath (asterisk), appearances consistent with De Quervain tenosynovitis. High-resolution ultrasound in the diagnosis of upper limb disorders: a tertiary referral centre experience. However, de Quervain tenosynovitis pain is more common with activity, while the pain and numbness associated with cheiralgia paresthetica is present at rest. Treatment of de Quervain tenosynovitis with ultrasound- guided injections is a safe and effective approach so long as careful attention is paid to the location of the radial artery and superficial branch of the radial nerve (Fig. Careful neurologic examination to identify pre-existing neurologic deficits especially of the radial nerve that may later be attributed to the procedure should be performed on all patients before beginning ultrasound-guided injection for de Quervain tenosynovitis. Complications of surgery to treat de Quervain can often be diagnosed with ultrasonography (Fig. C: Oblique ultrasound image showing the gap (arrow) between the two neuromas (void arrowheads) of the superficial radial nerve. Ultrasound-guided injection of triamcinolone and bupivacaine in the management of De Quervain’s disease. Sonographic identification of the intracompartmental septum in de Quervain’s disease. Ultrasound-guided corticosteroid injection for the treatment of de Quervain’s tenosynovitis. Passing obliquely over the extensor carpi radialis brevis and extensor carpi radialis longus tendons of the second compartment are the abductor pollicis longus and extensor pollicis brevis of the first compartment which all intersect at their musculotendinous junctions (Fig. This intersection is just proximal to the extensor retinaculum which serves to tether down the tendons and may contribute to the evolution of intersection syndrome. The key landmark when performing ultrasound-guided injection for intersection syndrome is Lister’s tubercle and the intersection of the extensor carpi radialis longus, the extensor carpi radialis brevis, the extensor pollicis brevis, and the abductor pollicis longus tendons and tendon sheaths. Passing obliquely over the extensor carpi radialis brevis and extensor carpi radialis longus tendons of the second compartment are the abductor pollicis longus and extensor pollicis brevis of the first compartment which all intersect at their musculotendinous junctions. A large number of flexor and extensor tendons pass from the forearm across the wrist to the hand. In order to help delineate the myriad extensor tendons within this anatomic region, anatomists have organized them into six compartments (Table 54. It is at the intersection of the first and second extensor compartments which contain the extensor carpi radialis longus, the extensor carpi radialis brevis, the extensor pollicis brevis, and the abductor pollicis longus tendons and associated muscles that a painful tenosynovitis known as intersection syndrome can occur (Figs. The inflammation responsible for the pain and functional disability associated with intersection syndrome is due to repetitive flexion and extension of the wrist when performing such activities such as cross-country skiing, sculling, rowing, and weight lifting. Often confused with other radial-sided wrist pain syndromes including de Quervain tenosynovitis, cheiralgia paresthetica (Wartenberg syndrome), and arthritis of the first metacarpal joint, intersection syndrome tends to occur more dorsally and proximally than these other conditions (Table 54. Intersection syndrome is caused by inflammation of the tendons and tendon sheaths of the extensor carpi radialis longus, the extensor carpi radialis brevis, the extensor pollicis brevis, and the abductor pollicis longus muscles. Contrast-enhanced coronal fat-saturated T1-weighted image (508/14) demonstrates severe peritendinous, muscle, and subcutaneous edema. One of the tendons of the first extensor compartment is seen distally on the radial side. Axial magnetic resonance imaging (T2-weighted fat-suppressed fast spin-echo) demonstrates peritendinous and subcutaneous edema extending proximally and distally from the intersection of the first (abductor pollicis longus and extensor pollicis brevis) and second (extensor carpi radialis longus and extensor carpi radialis brevis) compartment tendons (arrow). Palpation at the site of tendon intersection may reveal tenderness, color, and swelling. A positive creaking tendon sign is often present if there is significant inflammation (Fig. The examiner may appreciate what has been named “wet leather” crepitus with flexion and extension of the wrist. Plain radiographs of the wrist are indicated in all patients suspected of suffering from intersection syndrome to rule out occult bony pathology and to identify calcific tendinitis. Based on the patient’s clinical presentation, additional testing may be indicated, including complete blood cell count, uric acid, sedimentation rate, and antinuclear antibody testing. Magnetic resonance imaging and ultrasound imaging of the wrist is indicated to assess the status of the extensor carpi radialis longus, the extensor carpi radialis brevis, the extensor pollicis brevis, and the abductor pollicis longus tendons and tendon sheaths as well as to identify other occult pathology, including coexistent bursitis, arthritis, and gout involving the first metacarpal joint, cheiralgia paresthetica, and de Quervain tenosynovitis (Fig. T2 axial fat suppressed image demonstrating tendinitis and synovitis at the point of intersection of the extensor carpi radialis longus, the extensor carpi radialis brevis, the extensor pollicis brevis, and the abductor pollicis longus tendons (arrow). With the patient in the above position, the Lister tubercle of the radius is identified by palpation (Fig. Identification of the affected tendons is facilitated by having the patient extend the wrist against the examiner’s resistance. At the level of Lister tubercle, a high-frequency linear ultrasound transducer is placed in a transverse position over the intersection of the extensor carpi radialis longus, the extensor carpi radialis brevis, the extensor pollicis brevis, and the abductor pollicis longus tendons (Figs. The tendons will appear as the hyperechoic “hole” in the hypoechoic tendon sheath. The ultrasound transducer may be turned into the longitudinal axis to further delineate the point of intersection (Fig. When the point of intersection is identified, the tendons are evaluated for tendinopathy, tendinitis, abnormal fluid collections, soft tissue masses, and extrinsic compression (Figs. Proper transverse position of the linear high-frequency ultrasound transducer to perform ultrasound evaluation for intersection syndrome. Transverse ultrasound image demonstrating the relationship of the tendon and tendon sheaths of the first and second extensor compartments and their point of intersection. Edema and fluid at the musculotendinous junction of the extensor compartment 1 as it crosses compartment 2 (arrow). The use of ultrasound imaging and magnetic resonance imaging combined with a careful history and physical examination can distinguish intersection syndrome from de Quervain tenosynovitis and other causes of radial-sided wrist and hand pain. Statistically, there is a predilection for ganglion cyst development over the dorsal scapholunate interval (Figs. Ganglion cysts also frequently occur on the volar aspect of the wrist and fingers (Figs. There is a predilection for ganglion cyst development over the dorsal scapholunate interval. Transverse ultrasound image demonstrating classic ganglion cyst on the dorsal wrist. A: A lump (arrow) over the dorsal aspect of the wrist that was evident only during palmar flexion. Longitudinal image of the volar aspect of the fourth digit demonstrates an anechoic ganglion cyst (large arrow) associated with the flexor tendon (small arrows). The differential diagnosis can be difficult solely on clinical grounds as benign ganglion cysts that present in areas other than the wrist and the ankle are often misdiagnosed as solid tumors and solid tumors that appear over the wrist and ankle are often misdiagnosed as benign ganglion cysts. Such misdiagnosis can lead to disastrous consequences if a malignant solid tumor is erroneously diagnosed as a benign ganglion cyst (Fig.

Claeys and coworkers reported denitis purchase generic malegra dxt from india erectile dysfunction in diabetes pdf, hamartomas (intestinal buy malegra dxt visa erectile dysfunction on coke, liver, adrenal), and malro- hypertrichosis and synophrys in a child with del8p23. Schrander-Stumpel Ophthalmic Manifestations reported a child with “left-sided telecanthus and pseu- dostrabismus” and slightly upslanted palpebral fissures as Fryns reported hypertelorism and deep set-eycs with well as another child with epicanthal folds and pseudoesotro­ upslanting palpebral fissures with de! Phenotype does not kyphoscoliosis, electroencephalographic abnormalities, and correlate well with degree of mosaicism. Cases derived from a parental balanced Behavioral phenotype may include temper tantrums. Voigt translocation carrier more commonly have a breakpoint and coworkers reported hemihyperplasia and a discordant involving 9p24. Strabismus Verbraak and coworkers reported a child with congenital is seen in half, with esotropia being most common. They ascribed the ocular abnormality to the siblings with a marker 8 chromosome had no reported the 9p trisomy, as deletions of terminal lq have not previ­ eye abnormalities, their father, who had 10% mosaicism for ously been associated with this finding. Kolin reported generally usually a recessive condition, so it is possible that the first case of Axenfeld-Rieger spectrum malformation the small number of reported children with congenital but no glaucoma. The other eye Definition had chronic uveitis, band keratopathy, posterior embryo­ toxon, and a small optic disc. The first asso­ psychomotor retardation, seizures, dilation of cerebral ciation between clinical features and partial trisomy 9q ventricles, and cerebral atrophy. Therefore, it appears that leagues reported a child and mother who had dental dup9q32 may be a critical region. Clinical anced paracentric inversion of the terminal portion of 9q manifestations of dup9q34. Morbidity and mortality of patients alfected with the dup9q34-ter depend on the pres­ Ophthalmic Manifestations ence of life-threatening internal congenital anomalies that Among six patients with interstitial del9q22-32, supraor­ more often occur in cases of duplication of a fragment bital ridge hypoplasia was seen in two, synorphrys in one, longer than just 9q34. Stalker palpebral fissures, and hypertropia have been reported and coworkers reported one child with dup9q 12-33, who with chromosome del9q34. Microphthalmia, deep-set eyes, small and narrow hori­ zontal palpebral fissures, and hypotelorism have been reported in a girl with dup9q33. Duplication 9p Definition Trisomy 9 Most of the reported patients have only partial duplication Incidence rather than whole arm duplication of 9p. In fact, it may be that many live-born children actually have cryptic mosaicisms, Systemic and Ophthalmic Manifestations with non-mosaic cases succumbing prcnatally. Fujimoto suggested Characteristic features in live-born infants include intra­ that 9p22 may be the critical region for the craniofacial uterine growth retardation, skeletal anomalies (95%), characteristics of the duplication 9p syndrome. Dysmorphic craniofacial features include mal­ mations may be present, including posterior cleft palate, formed low-set ears (91%) with possible absent tracheomalacia, ventricular septal defect, and a small thy­ external canals, cleft/arched palate (83%), micrognathia mus. Deletion of (77%), bulbous nose (77%), wide fontanelles (71%), and Юр is felt to be second only to del22qll. Ocular findings in mosaic the Bannayan-Riley-Ruvalcaba syndrome is an autosomal trisomy 9 versus non-mosaic trisomy 9 are microph­ dominant disorder characterized by macrocephaly, lipo­ thalmia 9. They found thickened sclera replacing known as multiple hamartoma syndrome, is characterized the cornea and fused with the severely dysplastic intra­ by macrocephaly, mucocutaneous abnormalities, and ocular structures. All four syndromes appear to trabccular meshwork and only a suggestion of an iris, a be allelic and can result from dell0q23. Dermatologic lesions particularly characteristic of Cowden Definition disease include facial tricholemmas in the majority of cases, the majority of cases have their breakpoint at 10pl3. Anisometropia was diagnosed with pseudotumor cerebri based on the pres­ has also been reported. Incidence Over 60 cases have been reported, including those ass­ Systemic Manifestations ociated with monosomy of another chromosome due to translocation. Trisomy involving the 10qll-22 region usually manifests with growth retardation, microcephaly, mild to moderate developmental delay, prominent forehead, anteverted nares, Systemic Manifestations bow-shaped mouth, micrognathia, flat thick ear helices Attempts to delineate a common phenotype have been with or without ear pits and/or hearing loss, and long slender unsuccessful. Systemic Manifestations the manifestations of aniridia are variable, reflecting the Calabrese and coworkers reported a newborn with ring 10 characteristic variable expression of this disorder. Aniridia presenting with aganglionic megacolon (Hirschsprung dis­ (see Chapter 8) may occur with any combination of cata­ ease), renal hypoplasia,stubby nose, longphiltrum, microg racts, macular hypoplasia, glaucoma, keratopathy, and nathia, ear abnormalities, short neck, pectus excavatum, nystagmus. Anderson and colleagues reported aniridia, cata Downslanting palpebral fissures, hypertelorism, and ract, nystagmus, and gonadoblastoma but not Wilms’ microphthalmia have been reported by Calabrese and tumor in a patient with del 11p 12 and p 13. Their patients had aniridia, ptosis, cataract, glau Deletion l i p coma, nystagmus, and pale optic nerve. The Although Jacobsens original report described the deletion in reader is referred to Chapter 6 for more information. Riccardi reported genitourinary abnormalities, mental retardation, Wilms’ tumor, short neck, dysmorphic Jacobsen originally described terminal deletion of facies, ear abnormalities, cranial asymmetry, scoliosis, 1lq23-qter. The phenotype tends to define the following critical regions from centromeric to be less severe than terminal deletions. Terminal deletions from Ihe size of the deletion was correlated with the severity of I Iq23 are most often characterized by developmental delay dysmorphism and developmental delay, the latter being most (100%), trigonocephaly (95%), a flat bulbous nose, depressed prominent when 1Ц23 or llq24. Hertz and coworkers reported a stillborn child q222-lu who had transient hypocalcemia, hypotonia, severe with a subterminal deletion with a proximal breakpoint at growth and developmental retardation, dolichocephaly, 1 lq21. Although cleft lip and palate have infections despite a normal immunologic evaluation. Approximately 25% of patients will die before 2 years breakpoint of 11q23, in which the effect of a concomitant of age, usually due to the cardiac anomaly. Ophthalmic Manifestations Rateman reported bilateral Peters’ anomaly in a 5-week- old boy with dell 1q l4 or q22. Histologic examination of the cornea after keratoplasty showed an absent Descemets membrane and patchy endothelium with iridocorneal fyurv 13. In two of these cases the duplica­ be seen when the deletion starts at the presumed 1lq24. Ectropion locele, urogenital abnormalities, intestinal malrotation, has been reported in three cases with dell lq23-qter. In 2007 Jehee and coworkers described the first case of Jacobsen’s original description included a normal fundus- dupl Iql 1-13. Other clinical signs reported a normal fundus in a 1 year-old with dell lq23- in patients with d u p llq arc prominent occipital frontal qter but “poor retinal pigmentation” in a child with a similar bossing, hearing loss, micrognathia, cafe-au-lait spots, breakpoint along with other ocular malformations. The boy also normally associated with a more proximal deletion involv­ had ventricular septal defect, attcntion-deficit disorder, ing 11q23. This suggests that the early cytogenetic tech kyphoscoliosis, and significant behavioral problems. Systemic Manifestations Ophthalmic Manifestations Psychomotor retardation, mental retardation, intrauterine onset of growth retardation, developmental delay, mala­ the patient reported by Cousineau also had narrow lignment of teeth, micrognathia, cleft palate, low-set ears, downslanting palpebral fissures, telecanthus, and epican­ sparse hair, short and webbed neck, widely set nipples, thus. All cytogenetically atfected coccygeal anomalies, and cardiac and renal malformations arc associated with dell2ql5-q21. Ophthalmic Manifestations Findings included developmental delay, food-seeking behavior, obesity, abnormal hair whorl pattern, brachy- Hypertelorism is common (61%). As infant clectrorctinograms have lesser amplitude, this may Duplication 12p be a spurious finding. The child also had vertically oval optic Definition nerves and relatively poor visual responses in infancy, which may be due to the nystagmus, retina, or optic nerves.

By M. Sobota. Gonzaga University.