February 1980

Rothmund-Thomson Syndrome With Severe Dwarfism

Author Affiliations

From the Divisions of Medical Genetics, Departments of Medicine and Pediatrics, The Children's Orthopedic Hospital and Medical Center, and the University of Washington School of Medicine, Seattle.

Am J Dis Child. 1980;134(2):165-169. doi:10.1001/archpedi.1980.02130140039013

• 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 stature, associated skeletal anomalies, and an early onset of typical cutaneous changes.

(Am J Dis Child 134:165-169, 1980)