A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance

American Journal of Medical Genetics. Part a
Anne V HingMelissa A Parisi

Abstract

We describe a novel autosomal recessive malformation syndrome in four related individuals from a geographically isolated Native Alaskan community, who have facial defects similar to those of individuals with Treacher Collins (TCS) and Miller syndrome. Distinctive findings include malar and mandibular hypoplasia, lower eyelid coloboma, choanal atresia, orofacial clefting, and external ear malformation with preauricular tags. Intellect is normal and profound mixed hearing loss has been observed in affected adults. Variable extracranial findings include atrioseptal defect, renal dysplasia, and imperforate anus, however, no limb defects have been observed. Cranial imaging studies demonstrate relative prominence of the zygoma, inferior orbital maxillary hypoplasia, and lateral orbital wall defects with an accessory superior bony projection off the zygoma lateral to the orbital rim. We propose that these individuals have inherited a novel autosomal recessive condition we have termed oculo-oto-facial dysplasia (OOFD) with unique radiographic findings.

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Citations

Aug 3, 2013·Pediatric Surgery International·Giulia BrisighelliAlberto Peña
Apr 10, 2013·Clinical Genetics·D Wieczorek
Apr 14, 2015·Clinical Genetics·D LehalleC T Gordon
Oct 6, 2006·American Journal of Medical Genetics. Part a·Dagmar Wieczorek, Gabriele Gillessen-Kaesbach
Apr 14, 2007·American Journal of Medical Genetics. Part a·David A StevensonSarah T South
Mar 19, 2020·American Journal of Medical Genetics. Part a·Dhanya L NarayananAnju Shukla
Feb 16, 2021·Frontiers in Genetics·Katherine A WoodRaymond T O'Keefe

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