Blepharophimosis-intellectual disability syndrome, Ohdo type

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

Cholesteatoma

Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.

Total: 2

(per page)

PMID (PMCID)
30739122	MALE	Child
	Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome.
	Galletti B, Gazia F, Freni F, Nicita RA, Bruno R, Galletti F. Am J Case Rep. 2019;20:175-178.
	CONCLUSIONS This is the first case described in the literature of chronic otitis media associated with cholesteatoma in a patient with the SBBYS variant of Ohdo syndrome.
30739122	MALE	Child
	Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome.
	Galletti B, Gazia F, Freni F, Nicita RA, Bruno R, Galletti F. Am J Case Rep. 2019;20:175-178.
	A case is presented of chronic otitis media associated with cholesteatoma in a six-year-old boy with the SBBYS variant of Ohdo syndrome.