Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.
This is the first report of a fetus affected with campomelic acampomelic dysplasia presenting with increased nuchal translucency. Ultrasonography at 13 weeks of amenorrhea showed a nuchal translucency 5.6 mm thick. The karyotype performed on amniotic fluid cells was normal (46,XY). Ultrasonography at 22 weeks revealed a normal femoral length and female genitalia. A second amniocentesis was performed to confirm the karyotype and for dosage of steroid hormones. Testosterone dosage was low, corresponding to a female fetus. Ultrasonography at 32 weeks showed growth retardation of the long bones (< 3rd centile) that were not curved. A severe malformation syndrome was suspected and the pregnancy was terminated at 33 weeks. The fetus displayed macrocephaly, facial dysmorphism and female external genitalia. X ray showed straight and thickened long bones, hypoplastic scapulae and moderate platyspondyly. In view of the association of sex reversal, hypoplasia of the scapulae, and the presence of straight long bones, campomelic acampomelic dysplasia was suspected and confirmed by the finding of a SOX9 mutation. This case shows the importance of a careful echographic survey in a fetus with a nuchal translucency > 4 mm, especially if there is discordance between phenotypic and genotypic sex, since growth retardation may occur later during the pregnancy.
Laboratoire de Biochimie, Hôpital Debrousse, Lyon, France.
Laurence
L
Michel-Calemard
Gaëtan
G
Lesca
Yves
Y
Morel
Dominique
D
Boggio
Henri
H
Plauchu
Jocelyne
J
Attia-Sobol
D000649:Amniocentesis; D020732:Cytogenetic Analysis; D012734:Disorders of Sex Development; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D048208:Nuchal Translucency Measurement / Q000379:methods; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011859:Radiography; D055758:SOX9 Transcription Factor; D013739:Testosterone / Q000032:analysis; D014157:Transcription Factors / Q000235:genetics; D016216:Ultrasonography, Prenatal
D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors; D013739:Testosterone