Glossary in Congenital Malformations

NeuroLearn NeuroHelp Malformations @ General Syndromes

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General:

#Radiation: The final outcome is related to the time of exposure. Early exposure may cause fetal death. Later exposure may cause eye defects, microcephaly, and mental retardation. [Miller RW Health Phys 1990 59:57-61]

Syndromes and Sequences:  Head

#RHS (so called Smith-Lemil-Opitz) syndrome: this is caused by a defect in 7-dehyrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol. Features include microencephaly and characteristic facial look, blepharoptosis, anteversion of nostrils, micrognathia, broad alveolar ridges, and anteriorly rugose and highly arched palate, along with cleft uvula, submucous palate, or outrightly cleft palate, and congenital heart defect. CNS abnormalies include mild to profound mental retardation with or without seizures, microcephaly (rarely hydrocephaly), reduced myelination of brain and spinal cord, dysgenesis (or agenesis) of corpus callosum, hypoplasia of the cerebellar vermis, and many other, individuallynonspecific anomalies.

·         RHS stands for the initials of the first three children being described for this syndrome.

NeuroLearn NeuroHelp Malformations General Syndromes For Comment: KarMing-Fung@ouhsc.edu