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Amelia of the arms and Femur/Fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple

Amelia of the arms and Femur/Fibula deficiency with splenogonadal fusion in a child born to a... A male infant was born with symmetrical tetramelic limb deficiency consisting of bilateral upper limb amelia with severe symmetrical proximal focal femoral deficiency and fibula deficiency associated with left splenogonodal fusion of the discontinuous type, micrognathia, and a prominent capillary haemangioma of the face. The parents are first cousin Lebanese muslims. This observation suggests the possibility of recessive inheritance in some cases of the Amelia, Femur‐Fibula dysostosis syndrome with or without splenogonadal fusion. © 1995 Wiley‐Liss, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Amelia of the arms and Femur/Fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple

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References (29)

Publisher
Wiley
Copyright
Copyright © 1995 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320550304
pmid
7726220
Publisher site
See Article on Publisher Site

Abstract

A male infant was born with symmetrical tetramelic limb deficiency consisting of bilateral upper limb amelia with severe symmetrical proximal focal femoral deficiency and fibula deficiency associated with left splenogonodal fusion of the discontinuous type, micrognathia, and a prominent capillary haemangioma of the face. The parents are first cousin Lebanese muslims. This observation suggests the possibility of recessive inheritance in some cases of the Amelia, Femur‐Fibula dysostosis syndrome with or without splenogonadal fusion. © 1995 Wiley‐Liss, Inc.

Journal

American Journal of Medical Genetics Part AWiley

Published: Jun 30, 1997

Keywords: ; ; ; ; ; ;

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