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Article

SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

European journal of human genetics : EJHG - 1 Mar 2018

Ramachandrappa Shwetha, Kulkarni Abhijit, Gandhi Hina, Ellis Cheryl, Hutt Renata, Roberts Lesley, Hamid Rosol, Papageorghiou Aris, Mansour Sahar

Abstract excerpt

Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haploinsufficiency who presented in utero with short long bones during routine antenatal scanning from as early as 19...

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Source

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Identifiers

PMID: 29330548
DOI: 10.1038/s41431-017-0080-4
PMCID: PMC5839025

Genes

SHOX
SDS

Provenance

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