✦ LIBER ✦

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings

✍ Scribed by Nowaczyk, Malgorzata J.M.; Whelan, Donald T.; Hill, Robert E.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 34 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980806)78:5<419::aid-ajmg5>3.0.co;2-g

No coin nor oath required. For personal study only.

✦ Synopsis

Smith-Lemli-Opitz syndrome (SLO) is caused by inherited enzymatic deficiency of 7-dehydrocholesterol-⌬ 7 -reductase and resultant cholesterol deficiency. It comprises a characteristic combination of facial features, malformations, and mental retardation. We report on three related patients (two brothers and their first cousin) with mental retardation and minimal physical signs in whom the diagnosis of SLO was delayed for a number of years. The presence of a third-degree relative in the absence of consanguinity in this family supports the proposed high population carrier frequency. Our report suggests that cases of mild SLO remain undiagnosed and untreated, and that awareness of this common cause of mental retardation is low.

📜 SIMILAR VOLUMES

RSH (Smith-Lemli-Opitz) syndrome: ?Sever

RSH (Smith-Lemli-Opitz) syndrome: ?Severe? phenotype with ectrodactyly

✍ de Jong, Greetje; Kirby, Pat A.; Muller, Linnie M. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 1 views

We describe the antenatal ultrasound findings of growth retardation, oligohydramnios, mesomelic limb shortness, and cardiac, renal, and hand defects in a fetus who was postnatally diagnosed as having RSH ("Smith-Lemli-Opitz") syndrome. An unusual finding was ectrodactyly of both hands.

Smith-Lemli-Opitz syndrome in Japan

✍ Tsukahara, Masato; Fujisawa, Keiko; Yamamoto, Kiyomi; Hasui, Masaki; Saito, Chik 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 1 views

Biochemical variants of Smith-Lemli-Opit

Biochemical variants of Smith-Lemli-Opitz syndrome

✍ Neklason, Deborah W.; Andrews, Katy M.; Kelley, Richard I.; Metherall, James E. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 1 views

Smith-Lemli-Opitz (SLO or RSH) syndrome is characterized by multiple congenital anomalies, mental retardation, and defective growth; it results from an inherited defect in the biosynthesis of cholesterol. Patients have elevated plasma concentrations of 7-dehydrocholesterol, the immediate biosyntheti

Cholesterol supplementation in Smith-Lem

Cholesterol supplementation in Smith-Lemli-Opitz syndrome

✍ Abuelo, Dianne N. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 1 views

Adrenal insufficiency in Smith-Lemli-Opi

Adrenal insufficiency in Smith-Lemli-Opitz syndrome

✍ Andersson, Hans C.; Frentz, Johnette; Mart�nez, Jos� E.; Tuck-Muller, Cathy M.; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 1 views

We describe three unrelated patients with adrenal insufficiency and RSH or Smith-Lemli-Opitz syndrome (SLOS), a disorder due to deficient synthesis of cholesterol. These patients presented with hyponatremia, hyperkalemia, and decreased aldosterone-to-renin ratio, which is a sensitive measure of the

Variant RSH/Smith-Lemli-Opitz syndrome w

Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism

✍ Anderson, Arne J.; Stephan, Mark J.; Walker, William O.; Kelley, Richard I. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 1 views

The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome comprising microcephaly, developmental and growth retardation, characteristic facial anomalies, midline cleft palate, and genital and limb anomalies. Recently, biochemical evidence of an inborn error of cho