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Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts.
1]H-NMR spectroscopy has been applied successfully in the diagnosis of the Smith-Lemli-Opitz syndrome (SLOS) (10, 11).
They also want to know about the risk of Smith-Lemli-Opitz syndrome, which affects one of their siblings.
NW Andover, MN 55304-2501 (612) 434-1152 (612) 778-2331 (fax) 1,2,3 ROMANO-WARD SYNDROME See: Long Q-T Syndrome ROSAI-DORFMAN DISEASE See: Histiocytosis ROSSELI-GULIENETTI SYNDROME See: Ectodermal Dysplasias ROTHMUND-THOMPSON'S SYNDROME See: Ectodermal Dysplasias RSH SYNDROME See: Smith-Lemli-Opitz Syndrome RUBINSTEIN SYNDROME See: Rubinstein-Taybi Syndrome RUBINSTEIN-TAYBI SYNDROME See also: Craniofacial Disorders; Heart Disorders Rubinstein-Taybi Parent Group c/o Lorrie Baxter PO Box 146 Smith Center, KS 66967 (785) 697-2984 (785) 697-2985 (fax) www.
Doctors who were treating her told her mum Anita, 18, that the condition Smith-Lemli-Opitz Syndrome (SLOS) meant she only had two weeks to live.
A recently published screening algorithm for Smith-Lemli-Opitz syndrome (a disorder of cholesterol biosynthesis) relies on the finding of an isolated low uE3 concentration in the presence of AFP and hCG concentrations close to their respective median values (6).
1] described a syndrome, now generally referred to as the Smith-Lemli-Opitz syndrome (SLO), characterized by a number of birth defects affecting nearly every organ system?