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Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

Chloé Quélin 1, * Philippe Loget 2 Alain Verloes 3 Anne Bazin 4 Bettina Bessières-Grattagliano 5 Annie Laquerrière 6 Sophie Patrier 6 Romulus Grigorescu 7 Ferechté Encha-Razavi 5 Sophie Delahaye 8 Jean-Marie Jouannic 8 Bruno Carbonne 9 Dominique d'Hervé 10 Marie-Cécile Aubry 11 Guillaume Macé 9 Thierry Harvey 12 Yves Ville 13 Geraldine Viot 14 Nicole Joyé 7 Sylvie Odent 15, 1 Tania Attié-Bitach 16 Claude Wolf 17, 18 Françoise Chevy 17, 18 Pascale Benlian 19 Marie Gonzales 7 
Abstract : 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.
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Submitted on : Tuesday, January 24, 2012 - 10:02:53 AM
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Chloé Quélin, Philippe Loget, Alain Verloes, Anne Bazin, Bettina Bessières-Grattagliano, et al.. Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.. European Journal of Medical Genetics, Elsevier, 2012, 55 (2), pp.81-90. ⟨10.1016/j.ejmg.2011.12.002⟩. ⟨inserm-00662289⟩

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