PU¶PubMed·Journal article·Research (general)·33y agoANKRD11 -Related KBG SyndromeAudiologists seeing patients with KBG syndrome should be aware that hearing loss (both conductive and sensorineural) is a recognised feature; however, this GeneReviews reference article does not introduce new clinical guidance that would change current audiological management.＋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·Research (general)·33y agoOTOF -Related Hearing LossAudiologists should recognise the OTOF/otoferlin auditory synaptopathy profile — normal OAEs with absent/abnormal ABR — as a distinct entity guiding genetic referral and cochlear implant candidacy evaluation; no change to standard CI protocols is required pending emerging...＋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
PU¶PubMed·Journal article·Research (general)·33y agoGeneralized Arterial Calcification of InfancyAwareness of rare vascular genetic conditions like GACI is marginally relevant to audiologists only insofar as undiagnosed vascular pathology could contribute to unexplained sensorineural hearing loss in paediatric patients.＋Save
