Results 131 to 140 of about 790 (167)

Acrocephalosyndactyly (Apert's Syndrome)

Archives of Ophthalmology, 1967
A case of acrocephalosyndactyly in a 63-year-old woman is reported. The intelligence, sex, and racial distribution, hereditary tendency, and chromosomal analysis of acrocephalosyndactyly is discussed. Ocular complications of this syndrome were noted to be mainly optic atrophy, exophthalmos, and strabismus.
M, Seelenfreund, S, Gartner
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Acrocephalosyndactyly Syndromes

Journal of Craniofacial Surgery, 1997
Over the last quarter century, a revision has taken place in the classification of the acrocephalosyndactyly syndromes. This reflects the advances in molecular biology that have led to improved genetic mapping of these syndromes. In this review we provide an overview of these major acrocephalosyndactyly syndromes, including the current classification ...
C D, Prevel, B L, Eppley, M, McCarty
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FAMILIAL ACROCEPHALOSYNDACTYLY (PFEIFFER SYNDROME)

American Journal of Roentgenology, 1972
A family with acrocephalosyndactyly, which differs from classic Apert’s syndrome, has been described.The autosomal dominant manner of inheritance and the lack of interdigital osseous fusion clearly differentiates it from Apert’s syndrome. Other characteristic features include broad thumbs and great toes, normal intelligence, and only mild soft-tissue ...
R M, Saldino, H L, Steinbach, C J, Epstein   +2 more
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Otologic Manifestations of Acrocephalosyndactyly

Archives of Otolaryngology - Head and Neck Surgery, 1972
Four patients with Apert's acrocephalosyndactyly were found to have congenital maximum conductive hearing losses. A congenitally fixed stapes footplate and perilymph gusher, suggesting abnormally patent cochlear aqueduct, was found in the ear of one patient, whose mother also had the syndrome. In another young adult Negro patient with stable, long-term
L, Bergstrom, L M, Neblett, W G, Hemenway   +2 more
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Acrocephalosyndactyly - The Coalesced Hand

European Journal of Pediatric Surgery, 2002
Described nearly a century ago, Apert's Syndrome (A.S.) is a rare disorder affecting 1/80,000 children, the mode of inheritance is autosomal dominant or sporadic. Apart from the more obvious skull malformations, extensive and complex hand deformities create several problems for the child's interaction with its environment, preventing normal ...
N, Rebelo, R, Duarte, M José, Costa, M José, Leal   +3 more
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Acrocephalosyndactyly (Apert’s syndrome)

The Indian Journal of Pediatrics, 1968
A case of Apert’s syndrome in a male child of fourteen years is described and the literature briefly reviewed.
S, Saxena, J, Sharma, O, Saxena
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Acroceph alosyndactyly

Acta Paediatrica, 1953
SummaryA case of acrocephalosyndactyly is described. The parents and sibs have been examined by the writers. A pedigree is given and the clinical and genetical features of this rare malformation briefly reviewed.
J A, BOOK, L, HESSELVIK
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