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Metaphyseal chondrodysplasia, upper limb mesomelia and normal height (mesomelic dysplasia camera type): Second report in a Mexican patient
Author(s) -
BecerraSolano L.E.,
CastañedaCisneros G.,
BañuelosAcosta R.,
SánchezCorona J.,
GarcíaOrtiz J.E.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32082
Subject(s) - short stature , medicine , palpebral fissure , dysplasia , anatomy , atresia , ptosis , upper limb , surgery , pathology , pediatrics
Mesomelic dysplasias (MD) are a group of skeletal disorders with exclusive or predominant shortness of the middle segment of the limbs, with or without involvement of the hands/feet or other body parts. Short stature is a usual consequence due to involvement of the lower limbs. In 2003, Camera and Camera reported an unusual upper limb MD with normal stature and radiological evidence of long bone metaphyseal dysplasia. Here, we describe a Mexican patient showing a similar clinical and radiological phenotype, in addition to esophageal atresia, palpebral ptosis and slight lower limb asymmetry. This represents the second case reported in the literature, corroborating the existence of this rare entity. © 2008 Wiley‐Liss, Inc.