Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0265264 (HOS)
 1,119 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Radial longitudinal deficiency encompasses a spectrum of upper limb dysplasias and hypoplasias. The bony abnormalities of the thumb and radius are the most pronounced, but deficiencies of the accompanying muscles, nerves, vessels, and joints also greatly influence the ultimate upper extremity function. The striking clinical presentation of the involved upper limb is often more obvious than the potentially life-threatening associated systemic conditions. All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi's anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association. The overall health of the child, as well as the severity of the osseous and soft-tissue deformities of the affected limb, guides the long-term treatment plans.
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PMID:Radial longitudinal deficiency. 1721 81

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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PMID:Oculoauriculovertebral spectrum with radial anomaly in child. 2447 55