1/730. Normal visual development after unilateral complete ptosis at birth. We report on a 5-year-old boy who was born with a unilateral complete ptosis secondary to a lid hematoma sustained at birth, which resolved spontaneously over the course of 6 weeks. visual acuity and binocularity have developed normally. This case adds evidence to the proposal of a latent period before the onset of a sensitive period in visual development. ( info) |
2/730. Congenital myasthenia gravis: clinical and HLA studies in two brothers. Two brothers with congenital myasthenia gravis are described. In both, ptosis and ophthalmoplegia responded poorly to oral anticholinesterase therapy and to thymectomy. The brothers had two different HLA haplotypes and neither had the HLA-A1-B8-DW3 haplotypes which are commonly associated with myathenia gravis in adult-onset cases. ( info) |
3/730. Correction of eyelid anomalies in pachydermoperiostosis. PURPOSE: Pachydermoperiostosis, or primary hypertrophic osteoarthropathy, is a rare disease, characterized by pachydermia, acropathy, and periostosis. The authors propose the surgical correction of the eyelid anomalies in one stage. methods: A 30-year-old patient with moderate blepharoptosis (3 mm) and increased vertical and horizontal dimensions of the upper eyelids underwent fusiform transverse excision of skin, orbicularis muscle, and tarsus; shortening of the levator palpebrae superioris apeoneurosis by 13 mm; and 8-mm-wide wedge excision. RESULTS: Histologic findings included hyperplasia of the tarso-conjunctival plate, obstructive cystic dilatation of the sebaceous glands, extensive fibrosis, and granulomatous reaction. Satisfactory functional and aesthetic results were observed after surgery. CONCLUSION: Upper eyelid anomalies in pachydermoperiostosis can be corrected in a single stage bilaterally with good results. ( info) |
| The syndrome of blepharophemosis, blepharoptosis and epicanthus inversus is described in a female neonate who was admitted to the Ethio-Swedish Children's Hospital (ESCH) in Jan 1996 at birth. The clinical features and mode of transmission of the syndrome is discussed. ( info) |
5/730. Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility. We report on a 43-year-old woman who was referred for evaluation because of minor facial anomalies, myopathy, sterility, short stature, hearing loss, downward slant of palpebral fissures, bilateral ptosis, severe micro/retrognathia, high arched palate, and scoliosis. Cytogenetic analyses utilizing GTG/CBG bandings showed presence of one i(1p) and one i(1q) without normal chromosome 1 homologues. fluorescence in situ hybridization analysis showed hybridization to only two chromosomes, consistent with the G-banded interpretation of i(1p) and i(1q). To the best of our knowledge, this is the first case of isochromosomes 1p and 1q replacing the two normal chromosome 1s. Molecular investigations using markers for chromosome 1 showed inheritance of only one set of paternal alleles and absence of any maternal alleles in the patient. The adverse phenotype of the patient may be due to one or more recessive mutations, genomic imprinting, or a combination of both. ( info) |
6/730. cryosurgery in removal of orbital tumors. Two cases in which medially placed retro-orbital tumors were approached transfrontally have been presented. The computerized tomographic scanner was important in the localization of both lesions. Although of different histologic types, both tumors were friable and vascular. This friability and vascularity would have caused severe difficulties in removal had it not been for the facility with which a cryoprobe froze and grasped tumor tissue. The importance of this instrument, previously unemphasized, has been pointed out. ( info) |
7/730. cleft palate, ptosis, digital anomalies and mental retardation: a new syndrome or a distal arthrogryposis variant? A case is presented of a female with cleft palate, digital anomalies and mental retardation. The case is compared with one already reported and possible diagnoses discussed. These cases appear to present a new syndrome or a variant of distal arthrogryposis. ( info) |
8/730. Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation. A male patient with brachycephalosyndactyly syndrome associated with ocular and skin anomalies is reported and it is suggested that this patient has a previously undescribed disorder. ( info) |
| We report a 10-year-old girl with Marin-Amat syndrome, a rare facial synkinesis sometimes referred to as the inverted Marcus Gunn phenomenon. Symptoms were apparent 6 months following unilateral peripheral facial nerve palsy. Her facial synkinesis failed to improve, despite improvement in her facial palsy consistent with an aberrant regeneration of the facial nerve. The clinical Several neurologic syndromes feature abnormal interactions, or synkinesis, between anatomically proximate muscle groups. Among these, the Marcus Gunn phenomenon (trigemino-oculomotor synkinesis) is one of the best described in children. The Marcus Gunn phenomenon, or 'jaw-winking phenomenon,' consists of unilateral congenital ptosis and retraction of the ptotic lid upon moving of the lower jaw. Although many adults have been reported with this synkinesis, it is usually most prominent in newborn infants, in whom rapid spasmodic movements of the lid are seen during periods of nursing. In general, the Marcus Gunn phenomenon is unilateral and sporadic although familial and bilateral cases have been reported. Marin-Amat syndrome (or 'inverse Marcus Gunn phenomenon') is a rarely reported synkinesis in which one eyelid closes upon full opening of the jaw or movement of the jaw laterally. We now report a 10-year-old patient who began to develop features of Marin-Amat syndrome involving the right eyelid 1 month following right facial nerve palsy. This is the first documented report of this syndrome in a child. ( info) |
10/730. Multiple systemic and periocular malformations associated with the fetal hydantoin syndrome. 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. ( info) |