Paper Information

Journal:   ARCHIVES OF IRANIAN MEDICINE   July 2004 , Volume 7 , Number 3; Page(s) 222 To 224.
 
Paper: 

A THREE-DAY-OLD FEMALE WITH CARPENTER’S SYNDROME

 
 
Author(s):  OMIDI A.*, GHANADAN A.R., MAMOORI G.A., BOSCABADI H., GHODSI K.
 
* Mashhad University of Medical Sciences, Mashhad, Iran
 
Abstract: 
Carpenter’s syndrome (acrocephalopolysyndactyly type II Carpenter) is a rare syndrome characterized by acrocephaly, facial dysmorphism, and brachyclinosyndactyly of the hands and polysyndactyly of the feet.
To our knowledge, there are about 40 reported cases of Carpenter’s syndrome. The existence of this syndrome in the siblings of consanguineous parents suggests an autosomal recessive inheritance. The case reported here was a three-day-old girl with many abnormalities diagnosed both clinically and at autopsy. It is noteworthy that Carpenter’s syndrome had existed in more than one sibling in this family. Therefore, prenatal diagnosis of this syndrome by sonography during pregnancy is recommended.
 
Keyword(s): ACROCEPHALOPOLYSYNDACTYLY · CARPENTER*S SYNDROME · CONGENITAL ANOMALY
 
References: 
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