Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report.
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.
Department of Radiologie, Hôpital d'Enfants Armand-Trousseau, Paris, France.
A
A
Benaicha
M
M
Dommergues
J M
JM
Jouannic
A
A
Jacquette
M
M
Alexandre
M
M
Le Merrer
H
H
Ducou Le Pointe
C
C
Garel
D000328:Adult; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D006831:Polyhydramnios / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D011256:Pregnancy Outcome; D016216:Ultrasonography, Prenatal