Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
نویسندگان
چکیده
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.
منابع مشابه
Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?
Two cases of Smith-Lemli-Opitz syndrome type II are presented. During the late stages of both pregnancies maternal oestriol levels were unrecordable and there was evidence of suppression of maternal adrenal function. We speculate on the existence of a primary defect in the fetal adrenals.
متن کاملThe Association of Common Atrium with Smith-lemli-opitz Syndrome in an Infant
Smith-Lemli-Opitz syndrome is a rare syndrome presenting with multiple congenital anomalies/mental retardation associated with low plasma cholesterol levels. The spectrum of severity extends from prenatal death with holoprosencephaly or other lethal malformations, to patients with minimal physical abnormalities and normal intelligence or minimal intellectual impairment. Congenital heart defect ...
متن کاملSmith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates†
OBJECTIVE To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences. METHODS A total of 262 399 individuals with no known indication or increased probability of SLOS carrier status, primarily US based, were screened for SLOS mutations as part of an expanded carrier screening panel. Results ...
متن کاملPseudotrisomy 13: clinical findings and genetic implications.
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BACKGROUND Smith-Lemli-Opitz syndrome (MIM 270400) is an autosomal recessive malformation and mental retardation syndrome that ranges in clinical severity from minimal dysmorphism and mild mental retardation to severe congenital anomalies and intrauterine death. Smith-Lemli-Opitz syndrome is caused by mutations in the Delta7 sterol-reductase gene (DHCR7; EC 1.3.1.21), which impair endogenous ch...
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ورودعنوان ژورنال:
- European journal of medical genetics
دوره 55 2 شماره
صفحات -
تاریخ انتشار 2012