Smith-Lemli-Opitz syndrome

(redirected from SLOS)
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Smith-Lemli-Opitz syndrome

 [smith´lem´le o´pitz]
a hereditary syndrome, transmitted as an autosomal recessive trait, characterized by microcephaly, mental retardation, hypotonia, incomplete development of male genitalia, short nose with anteverted nostrils, and syndactyly of the second and third toes.

Smith-Lem·li-O·pitz syn·drome

(smith lem'lē ō'pits), [MIM*270400]
mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes, often in breech-born babies with delayed fetal activity; inherited as an autosomal recessive trait.

Smith-Lem·li-O·pitz syn·drome

(smith lem'lē ō'pits), [MIM*270400]
mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes, often in breech-born babies with delayed fetal activity; inherited as an autosomal recessive trait.

Smith-Lemli-Opitz syndrome

[ō′pitz]
Etymology: John Marius Opitz, German-born pediatrician in United States, b. 1935
an autosomal-dominant syndrome consisting of hypertelorism and hernias and, in males, hypospadias, cryptorchidism, and bifid scrotum. Cardiac anomalies, laryngotracheal malformations, imperforate anus, renal defects, lung hypoplasia, and downslanted palpebral fissures may also be present. Also called G syndrome, hypertelorism-hypospadias syndrome.

Smith-Lemli-Opitz syndrome

Neonatology A rare AR condition characterized by multiorgan birth defects, with microcephaly, hypotonia, dysmorphic facies–short nose with anteverted nares, ptosis of eyelids, micrognathia, poly- and/or syndactyly, ♂ genital disorders–cryptorchidism, hypospadias, endocrine defects, cataracts, cardiac and renal malformations, major mental retardation, FTT, high infant mortality Lab ↓ Cholesterol in < 5th percentile, ↑–2000 x normal cholesterol precursor 7-dehydrocholesterol–detected by GC which may be incorporated into cell membranes, interfering with proper functioning

Lemli,

Luc, 20th century U.S. pediatrician.
Smith-Lemli-Opitz syndrome - see under Smith, David W

Opitz,

John Marius, U.S. pediatrician, 1935–.
Opitz-Frias syndrome - males affected from birth; swallowing problems with recurrent aspiration, stridorous breathing, and hoarse cry.
Opitz-Kaveggia syndrome - in males; X-linked recessive syndrome of multiple congenital anomalies and mental retardation.
Smith-Lemli-Opitz syndrome - see under Smith, David W

Smith,

David W., U.S. pediatrician, 1926-1981.
Marshall-Smith syndrome - Synonym(s): Marshall syndrome
Mulvihill-Smith syndrome - see under Mulvihill-J
Smith-Lemli-Opitz syndrome - mental retardation, small stature, anteverted nostrils, ptosis, male genital anomalies, and syndactyly of the second and third toes.
References in periodicals archive ?
Blood samples (anticoagulated with ethylene diamine tetra-acetate) were accepted from referring medical practitioners who suspected SLOS on clinical grounds, including samples from the parents, with fasting lipid profiles when possible.
The biochemical diagnosis of SLOS was made at the age of 6 months, with a 7-dehydrocholesterol concentration of 836 [micro]mol/L.
2nd and 3rd trimester fetal transfusion with FFP (fresh frozen plasma) in SLOS cases, has found to increase fetal cholesterol and MCV (mean corpuscular volume) of RBCs which improved SLOS clinical expression (6).
CONCLUSION: SLOS should be considered for cases with 2nd and 3rd toe syndactyly and facial dysmorphism.
The simple blood test for SLOS testing for elevated serum 7-dehydrocholesterol was developed in 1994 and can be used prenatally and in children suspected of having the syndrome.
In children presenting with autism without the typical features with SLOS, she advised physicians to test for SLOS in children with milder features.
Others in the area have had a pleasant experience dealing with SLOC, one in particular whose business could have all but evaporated with the movement one way or another of the SLOS fence.
Vehicles entering SLOS will need to pass through a Vehicle Inspection Area (VSA) opposite the Greek Church on 300 West, a potentially huge tie-up.
in a double-blind analysis of 18 amniotic fluid samples comprising 6 SLOS and 12 controls, the DHC-to-cholesterol ratio was <0.
11) was always found to be at least 8 times lower than that in the SLOS samples (data not shown).
The patient materials from the SLOS, CTX, and sitosterolemia patients were obtained before treatment and therefore represent diagnostic samples.
SLOS is caused by a deficiency of the enzyme 7-dehydrocholesterol reductase (EC 1.