Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation

M L Kwee, J A van de Sluijs, J M G van Vugt, L C D Wijnaendts, J J P Gille

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of a short stature, bilateral symmetrical very short, broad and bowed radii, very short and broad ulna, mildly short lower legs, short proximal end of fibula, abnormal ankles, abnormal calcaneus and talus and pes equinus. They had normal craniofacial features, normal intelligence and normal chromosomes. We concluded that this skeletal dysplasia resembles the autosomal dominant mesomelic dysplasia, Kantaputra type. Prenatal diagnosis by ultrasound examination early in the pregnancy was possible. We found no evidence for a SHOX gene deletion or point mutation. As far as we know this is the third reported family with this skeletal dysplasia.

Original languageEnglish
Pages (from-to)404-9
Number of pages6
JournalAmerican Journal of Medical Genetics Part A
Volume128A
Issue number4
DOIs
Publication statusPublished - 1 Aug 2004

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