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Rothmund‐Thomson Syndrome: A Case Report
Author(s) -
Roth Donna E.,
Campisano L. Camille,
Callen Jeffrey P.,
Hersh Joseph H.,
Yusk Janice W.
Publication year - 1989
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1989.tb00918.x
Subject(s) - poikiloderma , medicine , facial dysmorphism , dermatology , girl , short stature , aplasia , surgery , pediatrics , genetics , phenotype , biology , gene
We present a 4‐year‐old girl with polklloderma, radiai aplasia, short stature, facial dysmorphism, and sparse hair. We believe these findings to be consistent with a diagnosis of Rothmund‐Thomson syndrome.