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.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Quélin C,Loget P,Verloes A,Bazin A,Bessières B,Laquerrière A,Patrier S,Grigorescu R,Encha-Razavi F,Delahaye S,Jouannic JM,Carbonne B,D'Hervé D,Aubry MC,Macé G,Harvey T,Ville Y,Viot G,Joyé N,Odent S,Attié-Bitach Tdoi
10.1016/j.ejmg.2011.12.002subject
Has Abstractpub_date
2012-02-01 00:00:00pages
81-90issue
2eissn
1769-7212issn
1878-0849pii
S1769-7212(11)00131-5journal_volume
55pub_type
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