[Ultrasonic prenatal diagnosis of the Jarcho-Levin syndrome].
The Jarcho-Levin syndrome is an autosomal recessive disease characterized by spinal and rib malformations (spondylocostal dysplasia). The case reported concerns a fetus with a dorsal spine angulation noted at the 15th week of gestation. A more accurate ultrasound study performed at 20 weeks revealed shortness of the neck and thorax, irregular ribs and vertebrae and absence of other visceral abnormalities. The karyotype was normal. Therapeutic abortion proposed was finally accepted by both parents at 27 weeks. The diagnosis was confirmed by post mortem radiography. No parental consanguinity was noted.
Lenoir
S
S
Service de Médecine infantile B, CHU Purpan, Toulouse.
Rolland
M
M
Sarramon
M F
MF
Degoy
S
S
Dinguirard
Y
Y
Regnier
C
C
D000032:Abortion, Therapeutic; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011296:Prenatal Diagnosis; D011859:Radiography; D013577:Syndrome; D014463:Ultrasonography
Diagnostic prénatal échographique du syndrome de Jarcho-Levin.