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

Marfan syndrome

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

Rhizomelia

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).

Total: 1

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PMID (PMCID)
3223499	MIXED_SAMPLE
	Arachnodactyly and unusual dermatoglyphics: study of a case.
	Krush AJ, Schaumann BA, Youssoufian H. Am J Med Genet. 1988;31(1):57-62.
	The anomalies, including contractural arachnodactyly, rhizomelia (a relative shortening of the proximal segment of the limbs), skin dimples, clinodactyly, disharmonic hand bone maturation, absent, hypoplastic and unusually positioned digital and metacarpophalangeal flexion creases, are not indicative of Marfan syndrome, but it is unclear what this syndrome constitutes.