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

Johnson neuroectodermal syndrome

Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.

Lower eyelid coloboma

A short discontinuity of the margin of the lower eyelid.

Total: 1

(per page)

PMID (PMCID)
20583178	FEMALE	Infant, Newborn
	Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?
	Zechi-Ceide RM, Guion-Almeida ML, Jehee FS, Rocha K, Passos-Bueno MR. Am J Med Genet A. 2010;152A(7):1838-40.
	Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?