Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report | Zendy

Benaicha A. | Zendy; Dommergues M. | Zendy; Jouannic J. M. | Zendy; Jacquette A. | Zendy; Alexandre M. | Zendy; Le Merrer M. | Zendy; Ducou Le Pointe H. | Zendy; Garel C. | Zendy

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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.

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