Rothmund-Thomson syndrome with severe dwarfism.
Two patients had severe dwarfism and limb anomalies, but also had other clinical characteristics of the Rothmund-Thomson syndrome, including characteristic skin changes, abnormal hair growth, sensitivity to sunlight, defective nails and teeth, and juvenile cataracts. We emphasize that this diagnosis should be considered in any patient with extremely short statute, associated skeletal anomalies, and an early onset of typical cutaneous changes.
D000328:Adult; D002648:Child; D004392:Dwarfism / Q000150:complications*; D005260:Female; D006801:Humans; D011038:Rothmund-Thomson Syndrome / Q000150:complications* / Q000175:diagnosis; D012871:Skin Diseases / Q000150:complications*; D013577:Syndrome