Results 131 to 140 of about 809 (163)
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Acrocephalosyndactyly Syndromes
Journal of Craniofacial Surgery, 1997Over 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, 1972A 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 +2 more
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Otologic Manifestations of Acrocephalosyndactyly
Archives of Otolaryngology - Head and Neck Surgery, 1972Four 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 +2 more
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Acrocephalosyndactyly - The Coalesced Hand
European Journal of Pediatric Surgery, 2002Described 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 +3 more
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Acrocephalosyndactyly (Apert’s syndrome)
The Indian Journal of Pediatrics, 1968A 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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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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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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Acrocephalosyndactyly, or apert's syndrome
British Journal of Plastic Surgery, 1968Summary 1.Four typical examples of Apert's syndrome are presented. 2.The literature on this subject is reviewed. 3.Current views regarding the aetiology and treatment are discussed. 4.Chromosome studies on one case are reported.
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ACROCEPHALOSYNDACTYLY IN SINGAPORE
The Journal of Bone and Joint Surgery. British volume, 19641. Five new cases of Apert's syndrome are presented, and the general features of the disease are discussed and correlated with these. The bony changes in the elbow and the delay in ossification are striking. The incidence in Singapore seems to be higher than elsewhere and the patients are all Chinese males. 2. In Singapore the disease is sporadic but
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Acrocephalosyndactyly a Case with Congenital Cardiac Abnormalities
The British Journal of Radiology, 1952Multiple skeletal deformities, syndactyly, polydactyly, and acrocephaly. Angiocardiogram performed at age of 6 weeks. Anomalous double superior venae cavae, pulmonary stenosis, and large interventricular septal defect.
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