Short Stature and Facioauriculothoracic Malformations

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

609654

Mode of Inheritance

Autosomal recessive

Description

Short stature and facioauriculothoracic malformations were described together in a Lebanese family. The sibs had short stature, microcephaly, ptosis, dysplastic ears, high arched palate or cleft lip/ palate, short neck, pectum excavatum and carinatum, cardiac malformation and mild cervical, and/or lumbar spine malformations.

Epidemiology in the Arab World

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Other Reports

Lebanon

Megarbane et al. (2004)  reported on 4 siblings, 2 of whom were deceased, presenting with features including short stature, microcephaly, ptosis, dysplastic ears, high arched palate or cleft lip/ palate, short neck, pectum excavatum and carinatum, cardiac malformation and mild cervical, and/or lumbar spine malformations. 

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