Goldenhar-Associated Conditions (hemifacial microsomia) and Congenital Deformities of the Spine

Tsirikos, Athanasios I.; McMaster, Michael J.

doi:10.1097/01.brs.0000219876.45640.2a

Cited by 39 publications

(23 citation statements)

References 34 publications

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“…Occurring in an estimated 2.0 to 3.3 per 10,000 live births,2 HFM is characterized by asymmetric underdevelopment of facial structures, including the ear, maxilla and mandible, soft tissues and facial nerves 3–8. HFM is phenotypically heterogeneous, ranging from microtia with mild mandibular asymmetry to Goldenhar Syndrome, which includes vertebral and eye anomalies4,8–12 and, variably, extracraniofacial anomalies 6,8,10–14.…”

Section: Introductionmentioning

confidence: 99%

Sleep Outcomes in Children With Hemifacial Microsomia and Controls: A Follow-up Study

et al. 2009

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Objective-Children with craniofacial anomalies are at high risk of sleep-disordered breathing (SDB), yet its prevalence among children with craniofacial conditions is not known. Children with a relatively common congenital craniofacial condition, hemifacial microsomia (HFM), are likely particularly vulnerable to SDB due to underdevelopment of the mandible and oropharynx. Nevertheless, most children with HFM are not referred for sleep studies. We hypothesized that sleep outcomes would be worse in children with HFM versus controls.Methods-We conducted a follow-up study among 124 cases and 349 controls who previously participated in a study of HFM risk factors. Cases were eligible if diagnosed by a craniofacial specialist at one of 25 participating centers. Controls were matched to cases by pediatric practice and age at interview. Parents completed the Pediatric Sleep Questionnaire (PSQ) regarding symptoms of SDB and sleep habits. Regression models were adjusted for region, age, sex, race/ethnicity and maternal education. Results-Snoring was more commonly reported for children with HFM (29%) than controls (17%)[adjusted odds ratio (adjOR)=1.9, 95% confidence interval (CI) 1.1-3.2]. Compared with controls, children with HFM more often had symptoms consistent with SDB (adjOR=2.8, CI 1.5-5.1). On average, cases' parents reported 1.9 times as many symptoms on the PSQ breathing scale (CI 1.4-2.7), and 1.3 times more symptoms on the PSQ sleepiness scale (CI 0.9-1.8) than did controls' parents, with little difference on the PSQ behavior scale. Parents of children with HFM reported 1.4 times more night awakenings than did controls' parents (CI 0.9-2.2). There was no association for sleep-onset latency or time in bed.Conclusions-Children with HFM experienced more snoring and other symptoms of SDB than controls. Pediatricians should be aware of the increased vulnerability for SDB among children with

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Section: Introductionmentioning

confidence: 99%

Sleep Outcomes in Children With Hemifacial Microsomia and Controls: A Follow-up Study

et al. 2009

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“…The cervical, spinal abnormalities of patients with oculoauriculo-vertebral spectrum are usually hemivertebrae, or spinal segmentation defects. Vertebral fusions have been reported, but without information about whether the fusion is of the blocked type (Klippel-Feil syndrome) or whether there is evidence of progressive, noninfectious anterior vertebral fusion (Willemsen, 1982;Rollnick et al, 1987;Ardinger and Lin, 1988;Van Bever et al, 1992;Van Meter and Weaver, 1996;Goldenhar, 2005;Tsirikos and McMaster, 2006). Fryns et al (1993) reported two possibly affected sibs.…”

Section: Discussionmentioning

confidence: 94%

Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrum

Kaissi

Grill²,

Alexander³

et al. 2008

Clinical Dysmorphology

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We report a 7-year-old-girl who presented with the clinical criteria of the axial mesodermal dysplasia spectrum. Her parents were first cousins. Her facial dysmorphism was compatible with Goldenhar syndrome and in addition, she had anterior noninfectious vertebral fusions of the cervical and the thoracolumbar vertebrae, a congenital dermal sinus and a hypoplastic sacrum. The urogenital and the anal-recto regions were normal. To the best of our knowledge, this is the first clinical report of a child with axial mesodermal dysplasia in association with progressive noninfectious anterior vertebral fusion.

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“…Not infrequently, these vertebral anomalies are associated with the facial malformations leading to the clinical picture of OAVS: a nonexclusive phenotypic spectrum of pathologic entities, which are related to defects of morphogenesis occurring at the same stages of embryologic development. The prevalence of OAVS in cases of congenital spine deformities diagnosed postnatally is 1.25-2%, with thoracic scoliosis being the most common clinical presentation [25,26] . Spinal anomalies described in patients with OAVS include hemivertebrae, occipitalization of the atlas, cuneiform vertebra, platybasia, partial or complete cervical synostosis of more than 2 vertebrae, spina bifida, lumbarization of the sacrum or aplasia of the sacral vertebrae and rib anomalies [27] .…”

Section: Discussionmentioning

confidence: 99%

Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction

Haratz

Vinkler²,

Lev³

et al. 2011

Fetal Diagn Ther

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Hemifacial microsomia (OMIM164210) is a condition featuring unilateral ear anomalies and ocular epibulbar dermoids associated with unilateral underdevelopment of the craniofacial bony structures. Other associated anomalies have also been described, especially spinal malformations, and the term oculoauriculovertebral dysplasia spectrum (OVAS) was suggested to include the three predominant systems involved. Both genetic and environmental causes are implied in the pathogenesis of the syndrome, with a 3% recurrence rate according to reports of both vertical transmission and affected siblings. No specific gene was identified, albeit mutations in chromosome 10 and deficiencies of genes in the endothelin pathway in mice exhibited the same clinical features. We hereby describe the first case of prenatal diagnosis of spinal and rib malformations associated to hemifacial microsomia by means of 2-D and 3-D ultrasound in a 23-week fetus. The sonographic study depicted fetal scoliosis due to the presence of hemivertebrae, Sprengel’s deformity of the left shoulder, ribs fusion, asymmetric ears with unilateral microtia, mandible unilateral hypoplasia as well as single umbilical artery and a ‘golf ball’ sign in the left ventricle of the heart. The diagnosis of OVAS was suggested and the family received proper genetic consultation. After termination of the pregnancy, the syndrome was confirmed by postmortem 3-D computed tomography study. In view of the grim outcome, prenatal death rate and high mortality and morbidity when three or more systems are involved, prenatal diagnosis and appropriate counseling are warranted.

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Goldenhar-Associated Conditions (hemifacial microsomia) and Congenital Deformities of the Spine

Cited by 39 publications

References 34 publications

Sleep Outcomes in Children With Hemifacial Microsomia and Controls: A Follow-up Study

Sleep Outcomes in Children With Hemifacial Microsomia and Controls: A Follow-up Study

Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrum

Hemifacial Microsomia with Spinal and Rib Anomalies: Prenatal Diagnosis and Postmortem Confirmation Using 3-D Computed Tomography Reconstruction

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