Abstract
Oculo-auriculo-vertebral (OAV) syndrome is made up of anomalies, mainly of first and second branchial arch derivatives. Characteristic features include structural malformations of the external and middle ears, face, and jaw. It has been previously suggested that hemorrhage involving the first and second branchial arches causes hypoplasia and malformation of the face and auricle, but this theory cannot explain the multisystemic and protean manifestations of this disease. The theory set forth describes the cutaneous, facial, vertebral, and systemic anomalies in the OAV spectrum as a result of ectodermal nondisjunction early in development with subsequent mesodermal tethering. A subgroup of OAV may therefore be a disorder of ectodermal nondisjunction involving the otic placode similar to the spectrum of diseases such as occult spinal dysraphism that is associated with the same mechanism in the embryonic neuraxis. This would imply a molecular mechanism involving cell adhesion molecules that unify the two disease processes and explain the multisystem anomalies of the OAV syndrome.
Citations
Mar 27, 2003·Pediatric Dermatology·M R Rivera-VegaS A Cuevas-Covarrubias
Dec 13, 2006·Clinical Dysmorphology·Christiane TasseDagmar Wieczorek
Sep 10, 2005·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Peter J Anderson, David J David
Apr 22, 2004·AJR. American Journal of Roentgenology·Eva Maria GassnerWerner R Jaschke
Jun 1, 2011·Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS·Marc Z HandlerJason Miller
Feb 11, 2009·International Journal of Pediatric Otorhinolaryngology·Henryk SkarzyńskiRobert Podskarbi-Fayette
Mar 8, 2005·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·Marilyn T MillerChristopher Gillberg
Dec 7, 2014·Pediatric Radiology·Nucharin SupakulChang Y Ho
Jul 21, 2006·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Antonio Richieri-Costa, Lucilene Arilho Ribeiro
Apr 4, 2015·Journal of Maxillofacial and Oral Surgery·Dinesh Singh Chauhan, Yadavalli Guruprasad
Jul 1, 2016·Journal of Medical Genetics·Estelle LopezCaroline Rooryck
Apr 20, 2005·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Olga VillanuevaScott R Lambert
Oct 15, 2011·Fetal Diagnosis and Therapy·Karina HaratzGustavo Malinger
May 17, 2007·American Journal of Medical Genetics. Part a·Kerstin StrömlandGösta Granström
Nov 10, 2007·Pediatric Neurosurgery·N DangeD Muzumdar
May 14, 2005·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Sotirios BisdasHartmut Becker
Oct 4, 2019·Journal of the American Academy of Orthopaedic Surgeons. Global Research & Reviews·Nils Hansen-AlgenstaedtAngelika Gutenberg
Jan 5, 2002·Annales de chirurgie plastique et esthétique·J B CharrierG Couly
Jun 5, 2007·Journal of Pediatric Ophthalmology and Strabismus·Zia ChaudhuriSanjiv Mohan
Aug 13, 2004·Journal of Pediatric Ophthalmology and Strabismus·Vimala MenonRohit Saxena