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A case of Carpenter syndrome diagnosed in a 20‐week‐old fetus with postmortem examination
Author(s) -
Balci S.,
Önol B.,
Eryilmaz M.,
Haytoglu T.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02501.x
Subject(s) - fetus , medicine , central nervous system , pediatrics , pregnancy , biology , genetics
Carpenter syndrome (acrocephalopolysyndactyly type II) is an autosomal recessive syndrome. The case we present was diagnosed prenatally at 20 weeks. Postmortem examination revealed severe central nervous system malformations. The central nervous system anomalies in this 23‐week‐old fetus merit emphasis, since these anomalies in such a young fetus may explain Carpenter syndrome cases, which do not improve in spite of early surgical intervention.