Progeria-short stature-pigmented nevi syndrome

Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)
19213035
 FEMALE Adult
Case report: Adult phenotype of Mulvihill-Smith syndrome.
Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K.
Am J Med Genet A. 2009;149A(3):496-500.
Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated.