ULLRICH-TURNER SYNDROME AND NEUROFIBROMATOSIS-1

There is a well-known association between neurofibromatosis-1 (NF1) an d Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due t o variable expression of the NF1 gene. We report on two girls with NF1 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 cafe-au-lait spots and a family history of NF1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46,XY/14% 4 5,X. Case 2, the first child of a woman with NF1, presented at birth w ith lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelo rism, narrow palate, right simian crease, 19 cafe-au-lait spots, and a xillary freckling. We conclude that chromosome studies should be perfo rmed in girls with NF1 who have short stature and Noonan- or Ullrich-T urner-like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone ther apy and estrogen replacement therapy. (C) 1996 Wiley-Liss, Inc.