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Rothmund-Thomson syndrome: a case report.

Roth, D E; Campisano, L C; Callen, J P; Hersh, J H; Yusk, J W.

Pediatr Dermatol ; 6(4): 321-4, 1989 Dec.

Article in English | MEDLINE | ID: mdl-2616389

ABSTRACT

We present a 4-year-old girl with poikiloderma, radial aplasia, short stature, facial dysmorphism, and sparse hair. We believe these findings to be consistent with a diagnosis of Rothmund-Thomson syndrome.

Subject(s)

Bone Diseases, Developmental , Face/abnormalities , Radius/abnormalities , Rothmund-Thomson Syndrome , Skin Diseases , Bone Diseases, Developmental/congenital , Child, Preschool , Diagnosis, Differential , Female , Humans , Hypotrichosis/congenital , Photosensitivity Disorders/congenital , Rothmund-Thomson Syndrome/diagnosis , Skin Diseases/diagnosis , Syndrome

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