Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.
Smith-Lemli-Opitz (SLO) syndrome or RSH syndrome is an autosomal recessive multiple malformation, and mental retardation syndrome ascribed to 7-dehydrocholesterol reductase deficiency, and usually diagnosed in the early postnatal period. Reviewing a series of 30 cases of SLO, we have investigated the variable antenatal expression of the disorder. Intrauterine growth retardation (IUGR) was the most frequent detectable trait (20/30). IUGR was either isolated (9/20) or associated with at least one other anomaly (11/20), including nuchal edema, renal, cardiac, cerebral malformations, genital anomalies, or polydactyly. In this last group, 3/11 presented with multiple malformations (> or =3 anomalies). In 5/30 cases, isolated nuchal edema (3/30), and isolated cardiac (1/30) or renal malformations (1/30) were the only detectable anomalies. Ultrasound findings were considered normal in 5/30 cases and were abnormal in 25/30 cases (83%), but early detection of multiple malformations was rare (3/30, 10%). We suggest giving consideration to a more systematic sterol analysis when dealing with IUGR, especially when associated anomalies are detected.
Goldenberg
Alice
A
Department of Medical Genetics, Hôpital Necker-Enfants-Malades, 149 rue de Sèvres, 75043 Paris cedex 15, France.
Wolf
Claude
C
Chevy
Françoise
F
Benachi
Alexandra
A
Dumez
Yves
Y
Munnich
Arnold
A
Cormier-Daire
Valérie
V
D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D006801:Humans; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency; D011247:Pregnancy; D012189:Retrospective Studies; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000201:enzymology; D016216:Ultrasonography, Prenatal
D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase