Unusual case of Smith‐Lemli‐Opitz syndrome “type II”
Authors:
- 15 April 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 56 (3) , 265-268
Abstract
We describe a fetus with abnormalities suggestive, but not typical, of severve Smith‐Lemli‐Opitz syndrome (SLO). Biochemical studies demonstrated that there was a defect of cholesterol biosynthesis similar to that recently discovered in children with SLO. The findings in this fetus extend even further the wide spectrum of abnormalities of the SLO phenotype, andemphasize that a genetic pathological examination and biochemical studies should always be undertaken on atypical cases, especially fetuses. © Wiley‐Liss, Inc.Keywords
This publication has 12 references indexed in Scilit:
- RSH/SLO (“Smith‐Lemli‐Opitz”) syndrome: Historical, genetic, and developmental considerationsAmerican Journal of Medical Genetics, 1994
- Prenatal diagnosis of Smith–Lemli–Opitz syndrome, type IIAmerican Journal of Medical Genetics, 1994
- Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndromeThe Lancet, 1993
- Targeted misexpression of Hox-4.6 in the avian limb bud causes apparent homeotic transformationsNature, 1992
- Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?Journal of Medical Genetics, 1990
- Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.Journal of Medical Genetics, 1988
- Female external genitalia and müllerian duct derivatives in a 46,XY infant with the Smith‐Lemli‐Opitz syndromeAmerican Journal of Medical Genetics, 1987
- Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethalityAmerican Journal of Medical Genetics, 1987
- The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.Journal of Medical Genetics, 1986
- A newly recognized syndromeof multiple congenital anomaliesThe Journal of Pediatrics, 1964