Microtia: epidemiology and genetics

DV Luquetti, CL Heike, AV Hing… - American Journal of …, 2012 - Wiley Online Library
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural
abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as …

Vacterl/vater association

BD Solomon - Orphanet journal of rare diseases, 2011 - Springer
VACTERL/VATER association is typically defined by the presence of at least three of the
following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo …

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

A Tingaud-Sequeira, A Trimouille… - Journal of medical …, 2022 - jmg.bmj.com
Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal
development of first and second branchial arches derivatives during embryogenesis and is …

Goldenhar syndrome: current perspectives

K Bogusiak, A Puch, P Arkuszewski - World Journal of Pediatrics, 2017 - Springer
Background Progress in medical branches that has taken place since the first child with
Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar, facilitated …

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

I Barisic, L Odak, M Loane, E Garne… - European Journal of …, 2014 - nature.com
Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised
mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral …

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

A Beleza-Meireles, J Clayton-Smith… - Journal of medical …, 2014 - jmg.bmj.com
Oculo-auriculo-vertebral spectrum (OAVS, OMIM 164 210) is a developmental disorder
primarily involving structures derived from the first and second pharyngeal arches during …

Microtia in Finland: comparison of characteristics in different populations

S Suutarla, J Rautio, A Ritvanen, S Ala-Mello… - International journal of …, 2007 - Elsevier
OBJECTIVE: To compare the characteristics of microtia in Finland and in other populations.
METHODS: Retrospective case series and patient questionnaire of 190 microtia patients …

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients

A Beleza-Meireles, R Hart, J Clayton-Smith… - European Journal of …, 2015 - Elsevier
Introduction Oculo-auriculo-vertebral spectrum (OAVS OMIM 164210) is a craniofacial
developmental disorder affecting the development of the structures derived from the 1st and …

Syndromes of the first and second pharyngeal arches: a review

MR Passos‐Bueno, CC Ornelas… - American Journal of …, 2009 - Wiley Online Library
Our aim in this review is to discuss currently known mechanisms associated with three
important syndromes of the first and second pharyngeal arches: Treacher Collins syndrome …

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

T Celse, A Tingaud-Sequeira, K Dieterich… - Journal of medical …, 2023 - jmg.bmj.com
Background Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause
of head and neck malformations in children after orofacial clefts. OAVS is clinically …