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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are presented. Quinacrine and trypsin-Giemsa banding identified the extra chromosome as No. 22. The phenotype of these patients and the review of 15 additional similar cases from the literature permit a definition of the cardinal features of trisomy 22; mental and growth retardation, microcephaly and craniofacial asymmetry, strabismus, beaked and prominent nose, long philtrum, cleft palate, micrognathia, large low set ears with preauricular tags and/or pits, long slender fingers, congenital heart disease, inguinal hernia, and hip dislocation.
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PMID:Trisomy 22. Two new cases and delineation of the phenotype. 4 27

Anticonvulsants remain necessary during pregnancy and the removal of such drugs is not recommended. However, on the available evidence, the physician may expect an increased risk of malformation including eye abnormalities as has been outlined. The abnormalities include growth deficiencies and delayed motor/mental development together with dysmorphic features, the most common of which seems to be cleft lip/cleft palate. Additionally, many of these children suffer from eye abnormalities including hypertelorism, ptosis, strabismus, epicanthal folds, and in this case abnormalities of the lacrimal apparatus.
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PMID:Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome. 10 74

We saw two cases of Waardenburg's syndrome in Nigerian children. A 9-year-old girl had congenital deaf-mutism, high-arched palate, complete heterochromia iridis with pigment mottling in the posterior pole of the eye with the hypochromic iris, dyspigmented frontal scalp hair, a history of vitiligo, but with no dystopia canthorum. An 11-year-old boy had a harelip with cleft palate, heterochromia iridis, blonde fundus on the eye with blue iris, and dystopia canthorum.
J Pediatr Ophthalmol Strabismus
PMID:Waardenburg's syndrome: case reports in two Nigerians. 45 27

3 cases of the 18q- syndrome, 2 boys and 1 girl, are presented, and a comparison with data from the literature is given. The following features are typical of the syndrome: short stature, mental retardation, muscular hypotonia, a peculiar dysmorphia of the face and ears, cryptorchidism and small scrotum in males, proximally implanted thumbs, tapering fingers, excess of whorls on the fingertips, and dorsally implanted second toes. Midface hypoplasia with hypertelorism and cleft palate, as well as strabismus, were present in 2 of our patients, whereas all 3 showed nystagmus and prominence of anthelix and antitragus. In addition, 2 patients exhibited narrow ear canals and impaired hearing. One patient had coloboma of the iris and choroid, pale optic discs, and cleft lip; another had umbilical and inguinal hernias. Two cases represented de novo deletions of the long arm of chromosomes 18, whereas the karyotype of the father of third case revealed a balanced translocation t(15;18)(q24;q21).
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PMID:Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases. 111

A 15-year-old boy had suffered burning of both palms and all fingers during his 2nd year of life. Epitheliazation of the lesions did not occur. In his 6th year, erythema, desquamation and erosion-like alterations appeared spontaneously on the soles of both feet and on the plantar sides of the toes. These alterations were similar to those on the hands. Histologically the lesion on the right sole was covered with a very thin horny layer and thin epidermis. The cells of the epidermis had clear cytoplasm and probably derived from the ductal epithelium of the sweat glands. Under the atrophic epidermis, granulation tissue consisting of lymphocytes, plasma cells, histiocytes, and a few polynuclear cells and eosinophils was seen. The following symptoms were still present in the boy: dys- and hypotrichosis, oligodontia, enamel and dentin hypoplasia, cleft palate and uvula, concomitants strabismus (left eye), and cryptorchidism. Transplantation of the patient's skin from the right thigh to the lesion on the right sole was tried. The authors postulate a previously unreported form of ecto-mesodermal dysplasia in this case.
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PMID:[Palmoplantar epidermal atrophy with hypokeratosis, dys- and hypotrichosis, hypodontia, enamel and dentin hypoplasia, isolated cleft palate with cleft uvula, strabismus cryptorchism and other anomalies--an undescribed ecto-mesodermal dysplasia?]. 167 42

Clinical picture of the fetal alcohol syndrome (FAS) is described by the example of three girls aged 9, 11 and 11 years. Besides mild to moderate mental retardation, all the three girls had a number of physical anomalies characteristic of FAS. Inheritance as the possible cause of these defects was ruled out by genetic testing. Low birth weight, delay in the postnatal growth and development, microcephaly, hypertelorism, malformed and low-positioned auricles, as well as skeletal alterations, were observed in the three girls. In two of them, epicanthus, strabismus, microphtalmia, gothic palate, crossbite and arachnodactyly were also found. Progenia, cleft palate, aplasia of the uvula, wide root of the nose, saddle nose, enamel hypoplasia, dermatoglyphic alterations, and cutaneous syndactyly and clinodactyly of the fifth finger were recorded in single cases each. One girl suffered from epilepsy. The orofacial region is especially affected in children with FAS, which necessitates specific dental care. Due to decreased intellectual abilities of such children, their treatment is particularly difficult and requires specific approach and methods of work.
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PMID:[Fetal alcohol syndrome--case report]. 181 57

A 10-month-old infant was referred to the ophthalmic department of the Royal Victoria Hospital for assessment. Pregnancy and delivery had been normal. At birth, cleft lip, cleft palate, hypertelorism and a soft tissue mass in the mouth were noted. At two days of age he developed meningitis, axial computerized tomography showed a sphenoethmoidal encephalocele, and agenesis of the corpus callosum. The basal encephalocele was surgically repaired. On examination in the ophthalmic department he was able to follow a light with the left eye. He perceived light with the right eye but did not follow. There was a manifest right divergent squint, measuring -10 degrees, and a right afferent nerve defect. Examination under anaesthetic was performed. The right fundus showed a Morning Glory syndrome. The disc was pink and deeply excavated, and surrounded by a ring of chorioretinal pigmentary disturbance. There was a central tuft of glial tissue. The left fundus was normal. The association of Morning Glory syndrome and basal encephalocele is rare; four previous cases have been reported. In all patients there were associated mid-facial congenital anomalies such as cleft lip and cleft palate. The presence of a basal encephalocele should be suspected if the Morning Glory syndrome occurs in association with mid-facial congenital anomalies.
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PMID:The Morning Glory syndrome associated with sphenoethmoidal encephalocele. 219 7

Stickler's syndrome is a much underdiagnosed entity in the ophthalmic population. It is a dominantly inherited disease of connective tissue whose ocular findings include moderate to severe myopia, vitreoretinal degeneration, retinal detachments, cataracts, and glaucoma. Non-ophthalmologic findings include cleft palate, midfacial hypoplasia, radiographic changes of spondyloepiphyseal dysplasia, narrow pelvis, and broad femoral neck. Twenty percent of patients with Stickler's syndrome will have a cleft palate. We undertook a study to determine the incidence of Stickler's syndrome in patients with an isolated cleft palate, and to see if this screening process would be useful in making an early diagnosis of the syndrome and in genetic counseling. It is important to distinguish this syndrome from that of isolated cleft palate in order to: 1) insure early detection of myopia and monitor for signs of retinal detachment, cataract, and glaucoma; and 2) provide definitive recurrence counseling for families (50% vs 2.3%).
J Pediatr Ophthalmol Strabismus
PMID:Stickler's syndrome in the Cleft Palate Clinic. 224 42

Thirty seven infants with Pierre Robin syndrome were compared with children who had isolated cleft palate. A female preponderance was seen in both groups. Skeletal II jaw relation was observed in 32% of the children with isolated cleft palate. Associated malformations such as hypertelorism and strabismus were more common in infants with Pierre Robin syndrome and also in those with isolated cleft palate combined with a skeletal II jaw relationship when compared with infants who had cleft palate with a skeletal I jaw relationship. The frequency of hypodontia also was greater in the former two groups than in the latter. Furthermore, no difference was found in the frequencies of U- and V-shaped clefts. The frequencies of near relatives with clefts were also not different between groups. Whilst it may be possible to observe from these findings an association between Pierre Robin syndrome and isolated cleft palate, it is difficult to conclude that they support any of the postulates regarding the aetiology of Pierre Robin syndrome.
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PMID:A comparative clinical study of Pierre Robin syndrome and isolated cleft palate. 259 55

Velo-cardio-facial syndrome is a common genetic syndrome of cleft palate, learning disability, heart disease, and abnormal facial appearance. Ocular findings include retinal vascular tortuosity, posterior embryotoxon, narrow palpebral fissures, suborbital discoloration, small optic nerves, iris nodules, and cataracts. Retinal vascular tortuosity was found to be associated intrinsically with the syndrome and not secondary to the heart disease. The ocular and systemic findings suggest a primary developmental anomaly of neural crest derivatives in the pathogenesis of the syndrome.
J Pediatr Ophthalmol Strabismus
PMID:Ocular findings in the velo-cardio-facial syndrome. 368 16


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