A family with dominant oculoauriculovertebral spectrum

Abstract

In 1990, Gorlin et al. [Syndromes of the Head and Neck, New York: Oxford University Press, pp 641-649, 707-708] proposed to lump several syndromes together, including facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, Goldenhar syndrome, the first branchial arch anomalies and the first and second branchial arches anomalies. They proposed to use the term oculoauriculovertebral "spectrum." Because there is no agreement on minimal diagnostic criteria the phenotype overlaps many genetic and teratologic syndromes. Most cases are sporadic, but familial instances have also been observed in first-degree relatives. We report on a mother and two of her children who have the oculoauriculovertebral "spectrum." The mother had only auricular anomalies for which she had plastic and reconstructive surgery. Her first child, a girl, had a bilateral cleft lip and palate, a coloboma of upper eyelid, facial asymmetry, and posteriorly angulated ears. This child also had bilateral vesicoureteral reflux. During the second pregnancy fetal ultrasonographic examination performed at 18th week of gestation showed a cleft lip and palate. At the thirty-first week of gestation, club feet, hypoplasia of the left ear, hypoplasia of the left maxillary and mandibular arches, and left microphthalmia were evident. Examination of this fetus confirmed ultrasonographic findings and demonstrated vertebral anomalies. This familial observation confirmed variable expressivity of the oculoauriculovertebral anomaly with isolated microtia (the mother), major malformations (the fetus), and less serious anomalies (the first child) and showed that this condition may be inherited as an autosomal or X-linked dominant condition.

Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS)

“…The minimal symptoms for the diagnosis of OAVS include at least two of these features: hemifacial microsomia, otic hypoplasia, vertebral abnormalities, epibulbar dermoid and/or upper eye lid coloboma (the two last symptoms typical of Goldenhar syndrome 8 ). Other features may be associated: palpebral abnormalities or ptosis, hypoplasia of internal or middle ear canal 9,10 , macrostomia, platybasia 11 , plagiocephaly, cheiloschisis, cheilognathopalatoschisis 12 , scoliosis 13 , limb, cardiac, urogenital malformations 14 , clinodactyly, flexion of fifth fingers, abnormalities of thumb, velo-pharyngeal insufficiency 15 , short stature. OAVS includes Goldenhar syndrome 16 , characterized by the association of hemifacial microsomia, microtia, skeletal abnormalities, and dermoid.…”

“…Msx genes expressed in cephalic NCC 34 are effectors of cells of the neural fold epithelium of Bmp, Wnt, Fgf pathways, which have a well determined role in NCC development. Msx genes have a critical role in first branchial arch differentiation 13 . Experimentally, hemizygous mice with mutated Msx gene exhibited hypoplastic first pharyngeal arch, due to delayed migration and/or increased apoptosis of NCC.…”

“…Msx homeobox genes have a parallel action to that of Dlx 5 and are downstream to it in jaw development, Dlx is stronger expressed in the first arch in animals and regulates mandibular prominence. Partial loss of function of Msx gene due to mutations are considered important in familial cases of OAVS 13 . Dlx and Hox genes, induce maxillary and mandibular bone development.…”

Síndrome de Goldenhar asociado a fisura labio alveolo palatina. Reporte de un caso.

“…La displasia oculoauriculovertebral o síndrome de Goldenhar es un cuadro polimalformativo relacionado Nayaret Soto 1 3,4,5 Se trata de un complejo de anomalías craneofaciales unilaterales y vertebrales 6 , una enfermedad muy rara, cuya incidencia se estima en 1 de cada 25.000 nacidos vivos. 5 Se desconoce la causa exacta de esta enfermedad que afecta al desarrollo del 1º y 2ª arco faríngeo, pero se postula la existencia de un posible defecto, trauma o exposición intraútero a determinados factores ambientales, exceso de vitamina K en el embarazo, entre otras.…”

Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas

“…3 The majority of Goldenhar syndrome cases are sporadic, but familial cases have been reported with autosomal dominant inheritance and varied expression and also cases in which there is consanguinity between parents, suggesting autosomal recessive inheritance. [5][6][7][8] There are reports of discordant clinical status among monozygotic twins in the international literature, but none in Brazilian scientific literature. [9][10][11][12] The authors report on a pair of female monozygotic twins where one of the children has Goldenhar syndrome while the other is healthy.…”