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Marshall-Smith syndrome

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

Micrognathia

Developmental hypoplasia of the mandible.

合計: 1

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PMID (PMCID)
16086394	MIXED_SAMPLE	Infant
	Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
	Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH. Am J Med Genet A. 2005;137(2):117-24.
	The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia.