Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
J J Varkey, R A K Jones

Abstract

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.

References

Sep 15, 1991·American Journal of Medical Genetics·G CameraP Mastroiacovo
Jan 1, 1991·Skeletal Radiology·A GiedionM Spycher
Sep 1, 1986·American Journal of Medical Genetics·S KnowlesD Rimoin
Sep 1, 1986·American Journal of Medical Genetics·Z BorochowitzD L Rimoin
Mar 1, 1973·Archives of Disease in Childhood·R LaxovaJ A Timothy
Nov 1, 1995·The British Journal of Radiology·K KozlowskiG Vijayalakshmi
Feb 24, 2001·Pediatric Radiology·P G NikkelsH J van der Harten
Oct 26, 2002·American Journal of Medical Genetics·Christine M Hall

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Citations

Feb 15, 2005·Prenatal Diagnosis
May 23, 2015·American Journal of Medical Genetics. Part a·Hane LeeUNKNOWN University of Washington Center for Mendelian Genomics
Jan 7, 2011·Prenatal Diagnosis·Asma KhalilLyn S Chitty

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