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Prenatal diagnosis and management of a new autosomal recessive skeletal dysplasia
Author(s) -
Roy K.K.,
Mittal S.
Publication year - 1995
Publication title -
international journal of gynecology and obstetrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.895
H-Index - 97
eISSN - 1879-3479
pISSN - 0020-7292
DOI - 10.1016/0020-7292(94)02309-m
Subject(s) - medicine , fibula , prenatal diagnosis , dysplasia , offspring , ankylosis , pediatrics , surgery , pregnancy , pathology , fetus , genetics , tibia , biology
We present a rare case of bilateral absence of fibula, hypoplastic femurs, ankylosis of knee joints and talipes equinovarus in a woman who had a previously affected offspring with similar defects. Antenatal diagnosis, management and a short review of the literature are presented.