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A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature.

作者信息

Courtens W, Nuytinck L, Fricx C, André J, Vamos E

机构信息

Department of Medical Genetics, Brugmann University Hospital, Brussels, Belgium.

出版信息

Clin Dysmorphol. 1997 Jul;6(3):219-27. doi: 10.1097/00019605-199707000-00004.

DOI:10.1097/00019605-199707000-00004
PMID:9220191
Abstract

A boy with features suggesting the diagnosis of Wiedemann-Rautenstrauch syndrome (WRS) or neonatal progeroid syndrome is presented. Abnormal findings included a generalized virtual absence of subcutaneous fat, sparse scalp hair, prominence of veins and muscles, a large and persistent anterior fontanelle and facial dysmorphism (triangular aged face, prominent eyes and scalp veins). Until now, only 13 cases (including one prenatal diagnosis) of this syndrome have been described. Since the borderlines of this syndrome are not very exact, we reviewed the previous reports in order to further delineate this rare syndrome.

摘要

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