Results 111 to 120 of about 665 (159)
Some of the next articles are maybe not open access.

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 ...
Howard L Steinbach, H L Steinbach
exaly   +3 more sources

A Case of Acrocephalosyndactyly With Low Imperforate Anus

Journal of Pediatric Surgery, 2004
The authors report a case of a female acrocephalosyndactyly with imperforate anus without fistula, which is rare in girls. Acrocephalosyndactyly is characterized by premature closure of the sutures (craniosynostosis) and fusion or webbing of hands and feet (syndactyly).
Yutaka Kanamori   +2 more
exaly   +3 more sources

Acrocephalosyndactyly in Singapore

Bone and Joint Journal, 1964
1. 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
exaly   +2 more sources

Renal Tubular Dysgenesis and Very Large Cranial Fontanels in a Family With Acrocephalosyndactyly S. C. Type

open access: yesAmerican Journal of Medical Genetics, Part A, 1991
We describe the first case of renal tubular dysgenesis in a newborn female who survived 15 days. The immunohistochemical and lectin binding studies confirmed the lack of proximal tubule differentiation. Electron microscopy showed undifferentiated tubular
M D'Armiento
exaly   +2 more sources

ACROCEPHALOSYNDACTYLY

open access: yesArchives of Pediatrics & Adolescent Medicine, 1947
H, GRAY, L B, DICKEY
openaire   +3 more sources

Acrocephalosyndactyly

open access: yes, 2011
The Radswiki, Arlene Campos, Henry Knipe
core   +3 more sources

Acrocephalosyndactyly

open access: yes, 2009
Hubert Scharnagl   +199 more
openaire   +2 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

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