PU¶PubMed·Journal article·Research (general)·33y agoThanatophoric DysplasiaWhile Thanatophoric Dysplasia is not primarily an audiology condition, audiologists working in craniofacial or genetics teams may encounter it as part of a broader differential when assessing infants with complex syndromic presentations.
PU¶PubMed·Journal article·Research (general)·33y agoGNPTAB -Related DisordersGNPTAB-related disorders (including mucolipidosis II and III) are rare genetic conditions; audiologists seeing patients with unexplained progressive hearing loss alongside systemic features should be aware this genetic panel exists, though no change to routine practice is...＋Save
PU¶PubMed·Journal article·Pediatric·33y agoCornelia de Lange SyndromeAudiologists seeing patients with CdLS should be aware of associated hearing loss (conductive, sensorineural, or mixed) and ensure regular audiological monitoring is part of the multidisciplinary care plan; no new clinical guidance beyond standard syndromic hearing loss...＋Save
PU¶PubMed·Journal article·Research (general)·33y agoUsher Syndrome Type IAudiologists seeing pediatric patients with congenital severe-to-profound sensorineural hearing loss should be aware of Usher Syndrome Type I as a differential and refer for ophthalmologic evaluation and genetic testing; no new practice change is introduced by this reference...＋Save
PU¶PubMed·Journal article·Research (general)·33y agoEBP- Related X-Linked Chondrodysplasia PunctataAudiologists seeing patients with this rare genetic syndrome should include hearing assessment in the multidisciplinary workup, but this GeneReviews reference entry introduces no new clinical guidance beyond established genetic counseling practice.＋Save
PU¶PubMed·Journal article·Clinical audiology·33y agoBeta-MannosidosisAudiologists evaluating children with unexplained sensorineural hearing loss (damage to the inner ear or hearing nerve) and developmental or speech delay should be aware of Beta-Mannosidosis as a rare differential diagnosis warranting metabolic genetics referral.＋Save
