Neurofibromatosis Type 1 with Overlap Turner Syndrome and Klinefelter Syndrome

被引：6

作者：

Hatipoglu, Nihal ^{[1
]}

Kurtoglu, Selim ^{[2
]}

Kendirci, Mustafa ^{[2
]}

Keskin, Mehmet ^{[3
]}

Per, Hueseyin ^{[4
]}

机构：

[1] Sisli Etfal Res & Educ Hospital, Dept Pediat Endocrinol, Istanbul, Turkey

[2] Erciyes Univ, Dept Pediat Endocrinol, Fac Med, Kayseri, Turkey

[3] Gaziantep Univ, Dept Pediat Endocrinol, Fac Med, Gaziantep, Turkey

[4] Erciyes Univ, Dept Pediat Neurol, Fac Med, Kayseri, Turkey

来源：

JOURNAL OF TROPICAL PEDIATRICS | 2010年 / 56卷 / 01期

关键词：

turner syndrome; klinefelter syndrome; Neurofibromatosis type 1; NOONAN-SYNDROME; DIAGNOSIS; FAMILY;

D O I：

10.1093/tropej/fmp053

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Turner's syndrome is a sex chromosome disorder. Klinefelter's syndrome is one of the most severe genetic diseases. Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin. In this article, we report the overlap of neurofibromatosis-1 with Turner and Klinefelter syndromes. Thus, these disorders might overlap within the same patient. Due to these cases, we suggest that each patient with Turner-like symptoms or Klinefelter's-like syndrome, be carefully examined for cafe au lait macules before the initiation of hormone replacement treatment.

引用

页码：69 / 72

页数：4