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Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other
Author(s) -
Vseticka Jan,
Gattnarova Zuzana,
Marik Ivo,
Kozlowski Kazimierz
Publication year - 2010
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.33328
Subject(s) - cystic hygroma , tetralogy of fallot , medicine , fetus , dysplasia , autopsy , anatomy , pathology , heart disease , pregnancy , biology , genetics
Two stillborn male sibling fetuses born to the same parents had severe mesomelic dysplasia documented at ultrasound and confirmed by radiography and autopsy. The 17‐week‐old fetus with increased neck translucency had additional heart and great vessel anomalies consistent with tetralogy of Fallot. The 15‐week‐old fetus had a nuchal cystic hygroma. We posit that these sibs have a distinct, previously unreported skeletal dysplasia. The mode of genetic transmission could be autosomal recessive or X‐linked recessive. © 2010 Wiley‐Liss, Inc.