Publications by authors named "Abdelhamid Bouramtane"
Article Synopsis
- Auriculocondylar syndrome (ARCND) is a rare craniofacial birth defect featuring abnormalities in the jaw and ears, with three identified subtypes, one of which (ARCND2) is linked to mutations in the PLCB4 gene.
- ARCND2 is typically inherited in an autosomal dominant fashion, but the study identifies a homozygous mutation in PLCB4 in a 3-year-old patient, leading to severe symptoms beyond typical craniofacial features, including intestinal issues and hearing loss.
- This research highlights the need for clinicians to recognize the full range of symptoms associated with ARCND, particularly due to the potential for rare and severe manifestations connected to PLCB4 gene variants.
Background Prader-Willi syndrome (PWS) is a complex genetic disorder caused by a deficit in gene expression on the paternal inherited chromosome 15q11.2-q13. It affects various aspects of growth and development, including feeding, cognitive function, and behavior.
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