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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.

Postaxial polydactyly

A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.

Total: 1

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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.
	BACKGROUND The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is characterized by congenital hypothyroidism, facial dysmorphism, postaxial polydactyly, and mental retardation.