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 ?
Nevertheless, both instruments allow the accurate identification of SLOS.
In newborn screening using blood spots, which may be introduced in the future for SLOS diagnosis, only LCMS/MS would be viable.
The proof of the concept lay in the correct diagnosis of SLOS in patient samples.
5] Nonstandard abbreviations: SLOS, Smith-Lemli-Opitz syndrome; GC-MS, gas chromatography-mass spectrometry; DHC, dehydrocholesterol; ES, electrospray; MS/MS, tandem MS/MS; GP, Girard P; LC, liquid chromatography; [MS.
If SLOS is suspected, it is important that the blood sample be sent to a special laboratory, because many hospital-based laboratories cannot distinguish between cholesterol and its precursor, 7-dehydrocholesterol, she said.
It is important not to miss a diagnosis of a child with SLOS in a child presenting with autism, so that appropriate genetic counseling can be provided to the family and [cholesterol treatment] may ameliorate problematic behavior in the child.
Once they arrive downtown, the landscape will be changed, but SLOS is working hard to ensure business can continue.
Samples from 2 other SLOS patients showed a similar NMR spectrum.
Accumulation of cholesta-5,7,9(11)-triene-3[beta]-ol in the blood of SLOS patients has been reported (10).
13) to study tumor-induced effects, its application in clinical diagnosis has hitherto been described only for the identification of unusual metabolites in the blood plasma of SLOS patients (10, 11).
Similarly, the presence of 7DHC and 8DHC in the plasma of SLOS patients is immediately evident from a simple 1-dimensional [sup.
The diagnosis of SLOS, CTX, and sitosterolemia can be made with almost 100% certainty based on NMR analysis.