The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …

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 …

Hemifacial microsomia (HFM) is a common congenital malformation of the craniofacial
region. There are 3 possible pathogenic models of HFM—vascular abnormality and …

Genomic studies and high-throughput experiments often produce large lists of candidate
genes among which only a small fraction are truly relevant to the disease, phenotype or …

The study of epigenetics has improved our understanding of mechanisms underpinning
gene‐environment interactions and is providing new insights in the pathophysiology of …

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 …

Craniofacial microsomia (CFM) is a term used to describe a spectrum of craniofacial
abnormalities caused by abnormal development of the first and second pharyngeal arch …

Care of individuals with syndromes affecting craniofacial and dental structures are mostly
treated by an interdisciplinary team from early childhood on. In addition to medical and …

Clinicians use different diagnostic terms for patients with underdevelopment of facial
features arising from the embryonic first and second pharyngeal arches, 1–4 including first …

Goldenhar syndrome or oculo-auriculo-vertebral spectrum (OAVS) is a complex
developmental disorder characterized by asymmetric ear anomalies, hemifacial microsomia …