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Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report
Author(s) -
Benaicha A.,
Dommergues M.,
Jouannic J. M.,
Jacquette A.,
Alexandre M.,
Le Merrer M.,
Ducou Le Pointe H.,
Garel C.
Publication year - 2009
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.7452
Subject(s) - chondrodysplasia punctata , medicine , prenatal diagnosis , polyhydramnios , osteochondrodysplasia , dysplasia , peroxisomal disorder , differential diagnosis , anatomy , pregnancy , fetus , pathology , genetics , biology , peroxisome , receptor
Brachytelephalangic chondrodysplasia punctata is a rare congenital skeletal dysplasia. Within the heterogeneous group of chondrodysplasia punctata, the brachytelephalangic type is noteworthy because it has a better prognosis than do the other types. We report a case of brachytelephalangic chondrodysplasia punctata diagnosed by ultrasound imaging at 30 weeks' gestation; it was associated with polyhydramnios and a normal cervical spinal canal. Imaging features are described and differential diagnosis with other forms of chondrodysplasia punctata is discussed. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.