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Case Reports
. 2005 Jan;14(1):27-30.

A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects

Murat Derbent  1 , Utku A Örün, Birgül Varan, Şükrü Mercan, Zerrin Yilmaz, Feride I Sahin, Kürsad Tokel
Affiliations
  • PMID: 15602090
Case Reports

A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects

Murat Derbent et al. Clin Dysmorphol. 2005 Jan.

Abstract

We describe a patient whose features represent a new entity within the oculo-auriculo-vertebral spectrum. The boy had right microtia, atresia of the external auditory canal, growth retardation, a complex heart defect, and extra-lobar pulmonary sequestration. The cardiac anomalies were persistent left superior vena cava, aortic stenosis, bicuspid aortic valves and subaortic membrane. Spinal films revealed complete fusion of the C2-C3 and C5-C6 vertebrae, and scoliosis of the lumbar spine. The patient's mental development was normal, and there were no abnormalities on ophthalmological examination. This report, reviews features of similar published cases, and argues why this may represent a 'new' entity within the oculo-auriculo-vertebral spectrum. The cardinal features are microtia, atresia of the external auditory canal, complex cardiac defects, growth retardation, normal mental and motor development in most cases and vertebral anomalies. All six of the patients reviewed were male raising the possibility of X-linked inheritance.

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References

    1. Cohen Jr MM, Rollnick BR, Kaye CI 1989. Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J 26:276–286.
    1. Cohen Jr MM, Gorlin RJ, Fraser FC 1997. Craniofacial disorders. In: Rimoin DL, Connor JM, Pyeritz RE (editors): Principles and practice of medical genetics. 3rd edn. Churchill Livingstone: New York; pp. 1121–1134.
    1. Derbent M, Yilmaz Z, Baltaci V, Saygili A, Varan B, Tokel K 2003. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am J Med Genet 116A:129–135.
    1. Gorlin RJ, Cohen Jr MM, Hennekam RCM 2001. Syndromes of the head and neck. 4th edn. Oxford University Press: Oxford; pp. 790–798.
    1. Guion-Almedia ML, Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini S, Guerini RCM, Salmen ICDM, et al. 2000. A Brazilian boy with aural atresia, microtia, complex heart defect, and hearing loss. Braz J Dysmorphol Speech-hear Disord 3:21–24.

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