Smith-Lemli-Opitz syndrome: review and report of two affected siblings.
This paper reports two siblings with the Smith-Lemli-Opitz syndrome and reviews the literature on the subject. SLOS is a syndrome of multiple congenital anomalies with mental and growth retardation, unusual facies, genito-urinary and hand and foot abnormalities inherited as an autosomal recessive trait.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003878:Dermatoglyphics; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007021:Hypospadias / Q000150:complications; D008607:Intellectual Disability / Q000150:complications; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008831:Microcephaly / Q000150:complications; D010641:Phenotype; D011247:Pregnancy; D011596:Psychomotor Disorders; D011707:Pyloric Stenosis / Q000150:complications; D011708:Pylorus / Q000601:surgery; D013576:Syndactyly / Q000150:complications; D013577:Syndrome