Schorry E K, Lovell A M, Milatovich A, Saal H M
Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
Am J Med Genet. 1996 Dec 30;66(4):423-5. doi: 10.1002/(SICI)1096-8628(19961230)66:4<423::AID-AJMG6>3.0.CO;2-L.
There is a well-known association between neurofibromatosis-1 (NF1) 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. 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 café-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% 45,X. Case 2, the first child of a woman with NF1, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 45,X. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 café-au-lait spots, and axillary freckling. We conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan- or Ullrich-Turner-like findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy.
神经纤维瘤病1型（NF1）与类似努南综合征的表现之间存在着一种广为人知的关联，这些表现包括身材矮小、短而宽的颈部以及眼距增宽。这些异常被认为是由于NF1基因的可变表达所致。我们报告了两名患有NF1的女孩，她们被发现患有乌尔里希-特纳综合征。病例1是一名12岁的白人女孩，因多发性咖啡斑以及其母亲和姐姐有NF1家族史而在神经纤维瘤病诊所接受随访。检查发现，她身材矮小、眼距增宽，颈部短且后发际线低。核型为86% 46,XY/14% 45,X。病例2是一名患有NF1的女性的第一个孩子，出生时即出现手足淋巴水肿和短而宽的颈部。核型为45,X。在23个月大时，她身材矮小，有内眦赘皮、眼距增宽、腭狭窄、右手猿线、19个咖啡斑以及腋窝雀斑。我们得出结论，对于患有身材矮小以及有类似努南或乌尔里希-特纳表现的NF1女孩，应进行染色体研究。NF1与乌尔里希-特纳综合征双重诊断所引发的困境包括生长激素治疗和雌激素替代治疗的潜在风险。
