𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Two cases of severe lethal Smith-Lemli-Opitz syndrome

✍ Scribed by Belmont, John W. ;Hawkins, Edith ;Hejtmancik, J. Fielding ;Greenberg, Frank ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
229 KB
Volume
26
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


RSH (Smith-Lemli-Opitz) syndrome: ?Sever
✍ de Jong, Greetje; Kirby, Pat A.; Muller, Linnie M. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 37 KB πŸ‘ 2 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.

Nosology of Smith-Lemli-Opitz syndrome
✍ Thompson, Elizabeth ;Baraitser, Michael ;Opitz, John M. πŸ“‚ Article πŸ“… 1987 πŸ› John Wiley and Sons 🌐 English βš– 80 KB πŸ‘ 2 views

It is important that clinical geneticists, where possible, categorise rare autosomal recessive disorders into discrete entities. This has become especially important for those who manage syndrome databases so that individual case reports can be correctly added to the existing literature or be entere

Atypical case of Smith-Lemli-Opitz syndr
✍ Angle, Brad; Tint, G.S.; Yacoub, Oraib A.; Clark, Ann L. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 15 KB πŸ‘ 2 views

Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder comprised of recognizable facial abnormalities, growth retardation, and multiple congenital anomalies, commonly involving genitalia, second and third toe syndactyly, and cleft palate. The condition is associated with hypocholesterol

Biochemical variants of Smith-Lemli-Opit
✍ Neklason, Deborah W.; Andrews, Katy M.; Kelley, Richard I.; Metherall, James E. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 46 KB πŸ‘ 2 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