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.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


合計: 3

                       


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PMID (PMCID)
21439014
 MALE
Suspicious pigmented tumor in Mulvihill-Smith syndrome.
Fuhler-Stiller M, Tronnier M.
J Dtsch Dermatol Ges. 2011;9(4):308-11.
Mulvihill-Smith syndrome is a rare progeria-like disorder with characteristic findings including premature aging, short stature, pointed face and multiple melanocytic nevi.
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.
16364148
 FEMALE Adult
Agrypnia excitata in a patient with progeroid short stature and pigmented Nevi (Mulvihill-Smith syndrome).
Ferri R, Lanuzza B, Cosentino FI, Iero I, Russo N, Tripodi M, Bosco P.
J Sleep Res. 2005;14(4):463-70.
Agrypnia excitata in a patient with progeroid short stature and pigmented Nevi (Mulvihill-Smith syndrome).