What syndrome is this? Rothmund-Thomson syndrome (poikiloderma congenitale). 1999

N B Silverberg, and D E Biro, and T A Laude
Department of Dermatology, State University of New York Health Science Center at Brooklyn, 11203, USA.

UI MeSH Term Description Entries
D008297 Male Males
D011038 Rothmund-Thomson Syndrome An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM. Poikiloderma Congenitale,Congenital Poikiloderma,Poikiloderma Atrophicans and Cataract,Poikiloderma Congenitale of Rothmund-Thomson,Poikiloderma of Rothmund-Thomson,Congenitale, Poikiloderma,Congenitales, Poikiloderma,Poikiloderma Congenitales,Poikiloderma of Rothmund Thomson,Rothmund Thomson Syndrome,Rothmund-Thomson Poikiloderma,Rothmund-Thomson Poikilodermas,Syndrome, Rothmund-Thomson
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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