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Femoral-facial syndrome

Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.

Microretrognathia

A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.

Total: 2

(per page)

PMID (PMCID)
20162871	FEMALE	Infant, Newborn
	A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia".
	Caglayan AO, Gumus H, Yikilmaz A, Gumus GO, Per H. Genet Couns. 2009;20(4):359-65.
	A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia": The femoral-facial syndrome (FH-UFS) is a rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and peculiar facies.
9192278	MIXED_SAMPLE	Infant, Newborn
	Lethal femoral-facial syndrome: a case with unusual manifestations.
	Gillerot Y, Fourneau C, Willems T, Van Maldergem L. J Med Genet. 1997;34(6):518-9.
	The femoral-facial syndrome is a very rare syndrome of uncertain inheritance comprising hypoplastic femora, microretrognathia, and a peculiar facies.