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Smith-Lemli-Opitz Syndrome, Type I

MedGen UID:
76488
•Concept ID:
C0282643
•
Disease or Syndrome
Synonyms: Smith Lemli Opitz syndrome, type 1; Smith Lemli Opitz Syndrome, Type I; Smith-Lemli-Opitz Syndrome, Type 1

Professional guidelines

PubMed

Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
Matza Porges S, Mor-Shaked H, Shaag A, Porat S, Daum H
Eur J Med Genet 2023 Oct;66(10):104825. Epub 2023 Sep 1 doi: 10.1016/j.ejmg.2023.104825. PMID: 37659595
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, Malunowicz E, Popowska E, Jezela-Stanek A, Piotrowicz M, Waye JS, Utermann G, Krajewska-Walasek M
Clin Genet 2004 Dec;66(6):517-24. doi: 10.1111/j.1399-0004.2004.00350.x. PMID: 15521979

Recent clinical studies

Diagnosis

MRI in Smith-Lemli-Opitz syndrome type I.
Trasimeni G, Di Biasi C, Iannilli M, Orlandi L, Boscherini B, Balducci R, Gualdi GF
Childs Nerv Syst 1997 Jan;13(1):47-9. doi: 10.1007/s003810050039. PMID: 9083702

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