Ullrich-Turner syndrome and neurofibromatosis-1

✍ Scribed by Schorry, Elizabeth K.; Lovell, Anne M.; Milatovich, Athena; Saal, Howard M.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 334 KB
• Volume: 66
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19961230)66:4<423::aid-ajmg6>3.0.co;2-l

✦ Synopsis

There is a well-known association between neurofibromatosis-l(NF'1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. W e report on two girls with NF'1 who were found to have the Ullrich-Turner syndrome. Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple cafh-au-lait spots and a family history of "1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46JCYl14% 453. Case 2, the first child of a woman with NFl, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 453. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 cafe-au-lait spots, and axillary freckling. W e conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan-or Ullrich-'hrnerlike findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy.