Publications by authors named "A Beyens"

Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly documented in childhood and comprise variable neurocognitive development, recognizable craniofacial features, a short stature with a pseudo-muscular build, hearing loss, thickened skin, joint limitations, diverse cardiovascular and airway manifestations, and increased fibrosis often following trauma or surgery. In contrast, adults with MS are underreported obscuring potential clinical variability.

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Article Synopsis
  • * Researchers have identified changes in the HRAS gene that are involved in skin and bone issues associated with conditions like nevus sebaceous and cutaneous-skeletal-hypophosphatasia syndrome.
  • * This study presents two new findings: the connection between HRAS-related ENS and a rare ear defect (auricular atresia) and the simultaneous occurrence of different types of skin nevi, highlighting the varied effects of HRAS gene variations on development.
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In patients with ATP7A-related disorders, counseling is challenging due to clinical overlap between the entities, the absence of predictive biomarkers and a clear genotype-phenotype correlation. We performed a systematic literature review by querying the MEDLINE and Embase databases identifying 143 relevant papers. We recorded data on the phenotype and genotype in 162 individuals with a molecularly confirmed ATP7A-related disorder in order to identify differentiating clinical criteria, evaluate genotype-phenotype correlations and propose management guidelines.

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