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Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation
Author(s) -
Korniszewski Lech,
Arbuckle Susan,
Kozlowski Kazimierz
Publication year - 2003
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.10208
Subject(s) - osteochondrodysplasia , dysplasia , medicine , growth retardation , radiography , anatomy , bone formation , pathology , pregnancy , surgery , biology , endocrinology , genetics
A number of more or less distinct entities with low birth weight and abnormal radiographic appearances have been identified. We studied two sisters who were unusual because of severe intrauterine growth restriction, absence of growth after birth, decrease of pre‐ and postnatal spontaneous mobility, and early fatal outcome. The chondro‐osseous morphology documented a distinctive osteochondrodysplasia. The radiographic examination was superficially similar to gracile bone dysplasias but was inconsistent with any known types of this group. These two patients appear to have a unique gracile bone dysplasia. © 2003 Wiley‐Liss, Inc.