Phenotypic Variations in Wolf-Hirschhorn Syndrome

Abstract

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal deletion of the short arm of chromosome 4. The clinical picture includes growth retardation, severe mental retardation, characteristic "Greek helmet" like face, seizures and midline defects in the brain, heart, palate and genitalia. Recently-used molecular techniques increase… (More)
DOI: 10.2478/bjmg-2014-0021

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