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Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review

30 Aug 2021

Abstract excerpt

Wolf-Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion' size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 34572183
DOI: 10.3390/children8090751

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