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Perinatally lethal, short‐limbed dwarfism with distinct features—Schneckenbecken dysplasia
Author(s) -
Varkey J. J.,
Jones R. A. K.
Publication year - 2004
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.1115
Subject(s) - medicine , dwarfism , dysplasia , third trimester , pediatrics , gynecology , fetus , pregnancy , pathology , genetics , biology , gene
The clinical, radiographical and histological features are described for a case of Schneckenbecken dysplasia, presenting antenatally with increased nuchal thickness and severe skeletal dysplasia. Intrauterine death occurred in the third trimester and the precise diagnosis was made postmortem. This is the first case reported in the UK. Copyright © 2004 ISUOG. Published by John Wiley & Sons, Ltd.