Glossary of Medical Terms

Our online medical glossary of medical terms and definitions includes definitions for terms related to treatment, and general medicine

SMITH-LEMLI-OPITZ SYNDROME

Autosomal recessive mess characterised by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally tall levels of 7-dehydrocholesterol and low levels of cholesterol.
Bielschowsky's stain   Biemond, A   Biemond syndrome   biennial   Bier, August   Biermer, Anton   Biermer's anaemia   Biermer's disease   (0)
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