Caroline Cervi

Sifrim-Hitz-Weiss syndrome associated with a novel de novo variant in the CHD4 gene: a case report with neurodevelopmental delay and congenital malformations

Case Presentation: A male patient, born to non-consanguineous parents, was referred to medical genetics due to congenital central hypotonia, motor developmental delay, and craniofacial dysmorphisms. Physical examination revealed a broad forehead, low nasal bridge and saddle nose, telecanthus, narrow palpebral fissures,...