Oculoauriculovertebral spectrum with radial anomaly in child.

[holt-oram syndrome]

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 .

Diseases
Validation

Diseases presenting "wide spectrum" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

allergic bronchopulmonary aspergillosis

canavan disease

classical phenylketonuria

focal myositis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

primary hyperoxaluria type 1

proteus syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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