A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects.
Clin Dysmorphol
; 14(1): 27-30, 2005 Jan.
Article
en En
| MEDLINE
| ID: mdl-15602090
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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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Columna Vertebral
/
Anomalías Múltiples
/
Anomalías del Ojo
/
Oído
/
Cardiopatías Congénitas
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Clin Dysmorphol
Asunto de la revista:
TERATOLOGIA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Turquía
Pais de publicación:
Reino Unido