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Report of 2 cases of Rubinstein-Taybi-syndrome. Description of the well known symptoms: Mental and somatic retardation, broad thumbs and toes, highly arched palate, retarded bone age, fine hair on limbs. Besides that there were eye abnormalities: Antimongoloid slant, strabismus, ametropia, monolateral ptosis, papillatrophia, latent nystagmus. Discussion of the differential diagnosis.
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PMID:[Ocular symptoms in Rubinstein-Taybi-syndrome (author's transl)]. 121 29

The Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis, low-set frontal hairline, parrot-beaked nose with deviated septum, ptosis of the eyelids, strabismus, refractive error, tear duct stenosis, dystopia canthorum, brachydactyly and abnormal dermatoglyphic patterns. The syndrome follows an autosomal dominant mode of transmission with complete penetrance and variable expressivity. Many cases of SCS have been previously reported but erroneously diagnosed as Crouzon syndrome, "pseudo-Crouzon" syndrome, simple craniosynostis, microcephaly or other inappropriate diagnostic category. Based on the findings in 6 kindreds with 31 affected individuals and an analysis of well-documented cases from the literature, the syndrome is delineated. Close attention to minor skeletal anomalies and "incidental" findings is emphasized.
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PMID:The Saethre-Chotzen syndrome. 122 25

In facial hemiatrophy two different types are known: the progressive acquired type, which is relatively more common, and the rare congenital non progressive form. Two children--both with congenital facial hemiatrophy--are presented, both showed a (horizontally and vertically) smaller lid fissure and antimongoloid configuration of the lid. In addition in one case we could observe: small corneal diameter, staphyloma posticum, paving stone degeneration of the retina, convergent strabismus, and vertical deviation, in the other case: ptosis, major astigmatism, and latent divergent strabismus.
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PMID:[Congenital facial hemiatrophy. Report of two pediatric cases]. 143 80

Noonan syndrome is a genetic condition inherited in an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic features of Turner's syndrome, but a normal Karyotype. The ophthalmological and orthoptic findings on 58 patients with Noonan syndrome are reported. External features were hypertelorism (74%), downward sloping palpebral apertures (38%), epicanthic folds (39%) and ptosis (48%). The orthoptic examination revealed strabismus in 48%, refractive errors in 61%, amblyopia in 33%, and nystagmus in 9% of cases. Sixty-three per cent of cases had anterior segment changes consisting of: Prominent corneal nerves (46%), anterior stromal dystrophy (4%), cataracts (8%) and panuveitis (2%). Fundal changes occurred in 20% of the study group, including optic nerve head drusen, optic disc hypoplasia, colobomas and myelinated nerves. Forty-seven per cent required non surgical treatment and a further 16% had undergone surgery for strabismus or ptosis. Only three patients had no visual defects. With such a high incidence of ophthalmic abnormalities it is clearly important that children with Noonan syndrome are screened by an ophthalmologist at an early age.
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PMID:Ocular manifestations of Noonan syndrome. 144 72

The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a "new" MCA/MR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.
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PMID:Short stature, mental retardation, eye anomalies, and cleft lip/palate. 160 26

We reviewed the ocular findings in patients with cranial stenosis, who were seen in the Craniofacial Clinic at The Children's Hospital of Philadelphia, to determine the prevalence, pattern, and etiology of visual loss. There were 15 patients with Apert syndrome, 25 patients with Crouzon syndrome, and 18 patients with other forms of craniofacial synostoses. Visual loss occurred in 17 eyes of 11 patients with Apert syndrome, 14 eyes of 11 patients with Crouzon syndrome, and 12 eyes of 8 patients with other craniofacial synostosis syndromes. Refractive errors and strabismus were present in the majority of these patients. Amblyopia due to strabismus, ametropia, or ptosis was the major reason for visual loss in all three groups of patients. Structural abnormalities contributed to loss of vision in six eyes.
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PMID:Visual loss in patients with craniofacial synostosis. 175 62

Oculopharyngeal muscular dystrophy is an inherited disorder, usually autosomal dominant, which typically becomes symptomatic during the fifth decade of life with slowly progressive ptosis and dysphagia; childhood onset has not been reported. A 13-year-old female of French-Canadian descent developed nasal speech and strabismus at 5 years of age; there was no family history of neuromuscular disease. Ptosis and mild facial and proximal muscle weakness were present by 9 years of age. Over the next 4 years, the patient developed dysphagia, palatal paralysis, weight loss, decreased ocular motility, scoliosis, shortness of breath, and obstructive apnea. Tracheostomy and gastrostomy were required. Creatine kinase and repetitive facial nerve stimulation were normal. Edrophonium testing was negative and electromyography revealed myopathic motor units in the iliopsoas muscle. A preponderance of type I fibers and scattered atrophic and angulated muscle fibers were present in 3 muscle biopsies. The clinical presentation and findings are consistent with childhood onset oculopharyngeal muscular dystrophy.
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PMID:Childhood onset oculopharyngeal muscular dystrophy. 176 43

One hundred and one cases of the blepharophimosis syndrome presenting over a decade are reviewed with particular attention to the factors influencing their visual development. Three distinct clinical patterns emerge--severe bilateral ptosis, moderate bilateral ptosis, and asymmetric ptosis--and their differing incidence of amblyopia and strabismus is discussed. The risk of amblyopia is much higher than previously believed (56.4% in our series) and preventive management is discussed.
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PMID:Visual development in the blepharophimosis syndrome. 176 67

With the possible exception of aesthetic considerations, the visual system is more involved in craniosynostosis than any other. Changes may be an inherent feature of the pathologic process or occur as a secondary complication. Several of these are potentially devastating, resulting in substantial permanent impairment in visual function. Because these are avoidable if recognized and managed early, prompt involvement of an ophthalmologist in the care of children with craniosynostosis is essential. Improvement in the appearance of these cases cannot obscure the importance of functional problems. In particular, disc edema, optic atrophy, and progressive optic nerve dysfunction may accompany increased intracranial pressure even without evidence of hydrocephalus and even with apparently open fontanelles. Uncorrected refractive error (particularly anisometropia), strabismus, ptosis, and corneal exposure problems are an invitation to the development of amblyopia. If not reversed, this can lead to permanent visual disability. Proptosis and corneal exposure problems are a third potentially treatable cause of functional blindness. Early diagnosis and prompt care will hopefully continue to improve the prognosis for these increasingly treatable children.
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PMID:Ophthalmic features of craniosynostosis. 182 6

We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, severely mentally retarded 5 year old boy. Findings common to all five liveborn patients so far identified as carrying this deletion include a pattern of minor dysmorphic features (prominent forehead, ptosis of the upper eyelids, full periorbital tissue, epicanthic folds, strabismus), muscular hypotonia, seizures, behavioural disorders, and lack of major malformations.
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PMID:Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype. 186 77


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