[Thomson-type congenital poikiloderma with major bone dysplasias].
The authors report one case of Thomson type congenital poikiloderma with major bone dysplasias. Acroplasia of all extremities with agenesis of tibia and radius, and a peculiar aspect of the face are in contrast with the scarcity of cutaneous symptoms, the absence of consanguinuity, cataract, photosensitivity. The position of Thomson type congenital poikiloderma among the congenital poikilodermas is reviewed.
D001848:Bone Diseases, Developmental / Q000150:complications*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000175:diagnosis; D012871:Skin Diseases / Q000150:complications*
Poïkilodermie congénitale type Thomson avec dysplasies osseuses majeures.