Malformations Complexes des Membres Supérieurs Associées à une Cardiopathie Congénitale. À propos de six observations

Author:

Emerit I.,de Grouchy J.,Laval-Jeantet M.,Corone P.,Vernant P.

Abstract

SUMMARYThe authors report on six patients exhibiting a congenital heart disease and malformations of the upper limbs. In two of them this association is similar to that described by Holt and Oram in 1960: atrial septal defect, heart arrythmia and abnormal thumbs. The other four patients have the same skeletal anomalies but different heart malformations. Dermatoglyphic studies revealed a high frequency of a distal position of the axial triradius and of an equivalent of a simian crease. The karyotypes are all normal. The etiology is discussed.

Publisher

Cambridge University Press (CUP)

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1. Dominant mode of inheritance in atrial septal defect;Clinical Genetics;2008-04-23

2. Holt-Oram syndrome;The Journal of Pediatrics;1979-10

3. Triphalangism and Pseudotriphalangism of the Thumb in Children;Acta Radiologica. Diagnosis;1979-01

4. Malformations of the Hand Associated with Congenital Heart Lesions;Australasian Radiology;1976-03

5. An operated case of Holt-Oram syndrome with autosomal dominant inheritance;Basic Research in Cardiology;1976-01

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