Rothmund-Thomson Syndrome With Severe Dwarfism
- 1 February 1980
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Pediatrics & Adolescent Medicine
- Vol. 134 (2) , 165-9
- https://doi.org/10.1001/archpedi.1980.02130140039013
Abstract
• 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)Keywords
This publication has 4 references indexed in Scilit:
- Poikiloderma congenitalePublished by Springer Nature ,2011
- Werner’s Syndrome (Progeria of the Adult) and Rothmund’s Syndrome: Two Types of Closely Related Heredofamilial Atrophic Dermatoses with Juvenile Cataracts and Endocrine Features; A Critical Study with Five New CasesPublished by Springer Nature ,1985
- POIKILODERMA CONGENITALEArchives of Dermatology and Syphilology, 1941
- AN HITHERTO UNDESCRIBED FAMILIAL DISEASEBritish Journal of Dermatology, 1923