Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: An autosomal dominant malformation

Robinow, Meinhard; Reynolds, James F.; Fitzgerald, Joan; Bryant, James A.; Opitz, John M.

doi:10.1002/ajmg.1320250616

Cited by 28 publications

(9 citation statements)

References 11 publications

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“…Most cases are sporadic but familial instances may also be observed. Affected individuals in successive generations have been observed [Cohen, 1971;Grabb, 1965;Herrmann and Opitz, 1969;Moeschler and Clarren, 1982;Regenbogen et al, 1982;Robinow et al, 1986;Rollnick and Kaye, 1985;Saraux et al, 1963;Setzer et al, 1981;Summitt, 1969;Taysi et al, 1983;Thomas, 1980]. Affected sibs with normal parents have also been reported [Grabb, 1965;Kirke, 1970;Krause, 1970;Saraux and Besnainou, 1965].…”

Section: Discussionmentioning

confidence: 99%

A family with dominant oculoauriculovertebral spectrum

et al. 1998

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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.

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Section: Discussionmentioning

confidence: 99%

A family with dominant oculoauriculovertebral spectrum

et al. 1998

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“…Middle or inner ear abnormalities and the absence of external ear canal can cause conductive hearing loss in 50% of cases [14]. Our patient presented malformation of the right to viruses or chemicals were also considered as etiological factors [11,12,26]. The mother of our patient had no history of diabetes, viral infections, alcohol consumption and exposure to teratogenic substances prenatally or intranatally.…”

Section: Discussionmentioning

confidence: 65%

Goldenhar Syndrome

Costea

2015

J Clin Res Ophthalmol

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Goldenhar syndrome (Oculo-Auriculo-Vertebral Spectrum) (OAVS) is a rare congenital condition characterized by craniofacial abnormalities associated with anomalies of the spine, heart, kidney, central nervous and gastrointestinal system. Craniofacial abnormalities include the incomplete development of the eye, ear, nose, soft palate, lips and jaw. We report a case of Goldenhar syndrome in a 14-years-old male patient. There are no other identified cases of congenital diseases in the patient's family history. At the age of 2, the patient was operated for complete right cleft lip and cleft palate dehiscence and it was then, that the suspicion for Goldenhar syndrome was harboured.The Goldenhar Syndrome diagnosis is clinical, as there are no specific genetic tests to detect this condition. The patient's karyotype was performed in the Genetics Clinic in order to order to exclude an eventual chromosomal abnormality. The result had been normal (46, XY).The ophthalmologic examination revealed the microphthalmia of the right eyeball. The ENT exam revealed facial dysmorphism, malformation of the right auricular pavilion with atresia of the external auditory canal and right nasal fossa malformation with deviated septum. The CT examination revealed a right orbit reduced in size, the right eyeball reduced in size with numerous annular calcifications, cleft lip and cleft palate, the area of the bone defect being occupied by soft tissue; flawed implanted dystrophic teeth; hypoplasia of the vertical and horizontal branch of the mandible; absence of the tympanic bone and the right external auditory canal; internal auditory canals, present semicircular ducts and complex vertebral malformations. Being a rare syndrome with many defects, early diagnosis is important, in order to apply appropriate treatment.

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“…Vertebral anomalies like hemivertebrae and hypoplasia of the cervical vertebrae and cervical fusion were absent in this case. [4567]…”

Section: Discussionmentioning

confidence: 99%

“…The anomalies observed in OAVS are hypoplasia of the thumb and hypoplasia and/or agenesis of the radio. [34] To date, about 32 cases of OAVS and radial defects have been reported. [5] Here we report a child who had OVAS with iris coloboma and a radial defect.…”

Section: Introductionmentioning

confidence: 99%

Oculoauriculovertebral spectrum with radial anomaly in child

Taksande

Vilhekar

2013

J Family Med Prim Care

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Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial–renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL) association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.

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Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: An autosomal dominant malformation

Abstract: Hemifacial microsomia, ipsilateral facial palsy and anomalies of the auricle were observed in father and son in two families. This combination of anomalies is a causally heterogeneous developmental field defect which may occur rarely as an autosomal dominant trait.

Cited by 28 publications

References 11 publications

A family with dominant oculoauriculovertebral spectrum

A family with dominant oculoauriculovertebral spectrum

Goldenhar Syndrome

Oculoauriculovertebral spectrum with radial anomaly in child

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