Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome

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• 作者：Chlo&#233 ; Qu&#233 ; lin^a ; ^{Chloe.QUELIN@chu-rennes.fr} ; Philippe Loget^b ; Alain Verloes^c ; Anne Bazin^d ; Bettina Bessiè ; res^e ; Annie Laquerriè ; re^f ; Sophie Patrier^f ; Romulus Grigorescu^g ; Ferecht&#233 ; Encha-Razavi^e ; Sophie Delahaye^h ; Jean-Marie Jouannic^h ; Bruno Carbonneⁱ ; Dominique D’ ; Herv&#233 ; ^j ; Marie-C&#233 ; cile Aubry^k ; Guillaume Mac&#233 ; ⁱ ; Thierry Harvey^l ; Yves Ville^m ; Geraldine Viotⁿ ; Nicole Joy&#233 ; ^g ; Sylvie Odent^a ; ^o ; Tania Atti&#233 ; -Bitach^p ; Claude Wolf^q ; Franç ; oise Chevy^q ; Pascale Benlian^r ; Marie Gonzales^g
• 刊名：European Journal of Medical Genetics
• 出版年：2012
• 出版时间：February, 2012
• 年：2012
• 卷：55
• 期：2
• 页码：81-90
• 全文大小：1888 K

文摘

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 gene. The phenotypic spectrum of SLOS is broad, ranging from a mild phenotype combining subtle physical anomalies with behavioral and learning problems, to a perinatally lethal multiple malformations syndrome. The fetal phenotype of SLOS has been poorly described in the literature. We report a series of 10 fetuses with molecularly proven SLOS. Even in young fetuses, the facial dysmorphism appears characteristic. Genital abnormalities are rare in 46,XX subjects. Gonadal differentiation appears histologically normal and in agreement with the chromosomal sex, contrary to what has been previously stated. We observed some previously unreported anomalies: ulnar hypoplasia, vertebral segmentation anomalies, congenital pulmonary adenomatoid malformation, fused lungs, gastroschisis, holomyelia and hypothalamic hamartoma. This latter malformation proves that SLOS phenotypically overlaps with Pallister-Hall syndrome which remains clinically a major differential diagnosis of SLOS.