Achondrogenesis type II with polydactyly

American Journal of Medical Genetics
M Rittler, I M Orioli

Abstract

We report on a newborn male infant who presented the typical findings of achondrogenesis type II (Langer-Saldino), and who also showed postaxial polydactyly on both feet and bilateral microtia. Polydactyly is frequently part of the short-rib syndromes, but has not been reported in achondrogenesis. The hypothesis of polydactyly as part of a contiguous gene syndrome is discussed.

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Mar 1, 1994·Nature Genetics·M VelinovP Tsipouras
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Citations

Jul 19, 2002·Prenatal Diagnosis·Ercan Kocakoc, Adem Kiris
Jun 11, 2008·Clinical Dysmorphology·Helen Wainwright, Peter Beighton
Mar 3, 2010·Plastic and Reconstructive Surgery·Qingguo ZhangWei Yin
Nov 13, 2004·Community Genetics·Eduardo E Castilla, Iêda M Orioli
May 29, 2016·Mutation Research. Reviews in Mutation Research·Hao DengLamei Yuan
Jul 22, 2008·Virchows Archiv : an International Journal of Pathology·Helen Wainwright, Peter Beighton

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