Results 161 to 170 of about 961 (204)

Acrocephalosyndactyly with report of a case

British Journal of Radiology, 1953
A case of Acrocephalosyndactyly, as first described by Apert, is reported. Reference is made to the high degree of function developed by the patient in grossly deformed hands and feet. There is no evidence that this case is familial and a review and discussion of some of the literature indicates that the condition belongs to the group of skull ...
exaly   +3 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

FACIAL AND HAND DEFORMITY IN ACROCEPHALOSYNDACTYLY

Plastic and Reconstructive Surgery, 1953
Michael L. Lewin
openaire   +3 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Acrocephalosyndactyly a Case with Congenital Cardiac Abnormalities

The British Journal of Radiology, 1952
Multiple 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.
openaire   +2 more sources

ACROCEPHALOSYNDACTYLY

Archives of Pediatrics & Adolescent Medicine, 1947
H, GRAY, L B, DICKEY
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[Acrocephalosyndactyly (ACS) (author's transl)].

Anales espanoles de pediatria, 1976
13 cases of ACS are presented: seven of them were identified as Apert's syndrome; two as Chotzen's syndrome; three as Carpenter's syndrome, and one as Pfeiffer's syndrome. These disorders have no known ethiology. However, it is necessary to look for diabetic antecedents and dermatogliphus alterations, both in the patient and the parents.
A V, Fajardo Carmona, I, Pascual Castroviejo   +1 more
openaire   +1 more source

Autosomal recessive acrocephalosyndactyly revisited

American Journal of Medical Genetics, 1980
J G, Hall, S D, Reed, C J, Sells, J W, Hanson   +3 more
openaire   +2 more sources