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Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation
Author(s) -
Ueno Kazunori,
Tanaka Mamoru,
Miyakoshi Kei,
Zhao Chen,
Shinmoto Hiroshi,
Nishimura Gen,
Yoshimura Yasunori
Publication year - 2002
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.470
Subject(s) - hypoplasia , medicine , prenatal diagnosis , fetus , pulmonary hypoplasia , anatomy , cisterna , arthrogryposis , gestation , autopsy , magnetic resonance imaging , radiology , pregnancy , pathology , biology , cell , genetics , golgi apparatus
We describe prenatal diagnosis in a male fetus at 21 weeks of gestation with atelosteogenesis type I (AO I). Fetal ultrasonography (US) revealed absent or deficient ossification of the posterior neural arches of the thoracic spine, humeri, radii, ulnae, fibulae, and short tubular bones other than the distal phalanges, in addition to extremely short, thick femora. Fetal magnetic resonance imaging (MRI) using an ultrafast imaging sequence depicted dysmorphic features, pulmonary hypoplasia, and large cisterna magna. Postmortem radiographs warranted a diagnosis of AO I. Autopsy corroborated not only pulmonary hypoplasia but also laryngeal stenosis. The chondro‐osseous histological findings were consistent with those of AO I. Meticulous evaluation using fetal US and MRI permits a definitive prenatal diagnosis of AO I to be made. Copyright © 2002 John Wiley & Sons, Ltd.