کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2816993 | 1159960 | 2013 | 4 صفحه PDF | دانلود رایگان |
• CES presents a variable phenotype and short stature is a common feature.
• The association between structural pituitary anomaly and CES has been reported.
• Deletions in the 22q11.2 may influence the development of midline structures.
• We report a case of CES and short stature with GH deficiency and pituitary anomaly.
• On 22q11 syndromes GH levels and pituitary anomalies must be carefully assessed.
Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted.
Journal: Gene - Volume 529, Issue 1, 15 October 2013, Pages 186–189