Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Anotia

A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.

Ventricular septal defect

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

Total: 1

(per page)

PMID (PMCID)
8741036	FEMALE
	Goldenhar, Mobius and hypoglossia-hypodactyly anomalies in a patient: syndrome or association?
	Preis S, Majewski F, Hantschmann R, Schumacher H, Lenard HG. Eur J Pediatr. 1996;155(5):385-9.
	We describe a 3-year-old girl with bilateral anotia, epidermoid on the right eye, 6th and 7th nerve palsy, hypoglossia, left hypodactyly, and ventricular septal defect.