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 …

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 …

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 …

Genetics of microtia and associated syndromes

F Alasti, G Van Camp - Journal of medical genetics, 2009 - jmg.bmj.com
Microtia is a congenital anomaly, characterised by a small, abnormally shaped auricle
(pinna). It is usually accompanied by a narrow, blocked or absent ear canal. Microtia can …

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 …

Clinical and cytogenomic findings in OAV spectrum

S Bragagnolo, MES Colovati, MZ Souza… - American journal of …, 2018 - Wiley Online Library
The oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the
development of the first and second pharyngeal arches during the embryonic period. The …

Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: an overview of the current concepts

JF Felix, EM de Jong, CP Torfs… - … Research Part A …, 2009 - Wiley Online Library
Esophageal atresia and/or tracheoesophageal fistula (EA/TEF) are severe congenital
anomalies. Although recent years have brought significant improvement in clinical treatment …

Genome-Wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS)

V Guida, L Calzari, MT Fadda… - International Journal of …, 2021 - mdpi.com
Oculo-auriculo-vertebral-spectrum (OAVS; OMIM 164210) is a rare disorder originating from
abnormal development of the first and second branchial arch. The clinical phenotype is …

Naevi and other developmental defects

C Moss, H Shahidullah - Rook's textbook of dermatology, 2010 - Wiley Online Library
This chapter covers birthmarks and other anomalies found in infants. Naevi are classified
according to the tissue of origin: epidermis, connective tissue, fat and muscle. Melanocytic …

Clinical care in craniofacial microsomia: a review of current management recommendations and opportunities to advance research

CL Heike, AV Hing, CA Aspinall… - American Journal of …, 2013 - Wiley Online Library
Craniofacial microsomia (CFM) is a complex condition associated with microtia, mandibular
hypoplasia, and preauricular tags. It is the second most common congenital facial condition …