Pedigree analysis on three cases with short stature due to neurofibromatosis type Ⅰ

PAN Dan-ping; LU Xiang-peng; DUAN Feng-yang; WANG Zhi-ru; YAO Xian-hua; MA Bing-xiang; YANG Yan-ling; ZHENG Hong

doi:10.11852/zgetbjzz2018-26-04-19

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Chinese Journal of Child Health Care ›› 2018, Vol. 26 ›› Issue (4) : 418-420. DOI: 10.11852/zgetbjzz2018-26-04-19

Pedigree analysis on three cases with short stature due to neurofibromatosis type Ⅰ

PAN Dan-ping¹, LU Xiang-peng¹, DUAN Feng-yang², WANG Zhi-ru², YAO Xian-hua²,
MA Bing-xiang², YANG Yan-ling³, ZHENG Hong²

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Abstract

Objective To analyze the possible mechanism and prevention of short stature caused by NFⅠthrough the analysis of a pedigree of neurofibromatosis type Ⅰ (NF Ⅰ). Method The clinical data and gene test data of 3 cases of NFⅠwith short stature in a pedigree were retrospectively analyzed. Results The height of two cases of children and their mother were less than 2 standard deviations,all with typical skin changes and varying degrees of skeletal deformity.The bone age of two children lagged behind over 1 year and the level of IGF-1 was lower,with normal thyroid function and no tumor-related abnormalities.Genetic sequencing showed that there was a heterozygous mutation(c.4267A>G) in mother and 2 children diagnosed with NF Ⅰ. Conclusions NFⅠ,one of the special causes of short stature should be given high priority.It is an autosomal dominant disease,and there is no effective treatment for NFⅠ.Therefore,prenatal diagnosis is the most important prerequisite for preemptive families to prevent NF Ⅰ.

Key words

neurofibromatosis type Ⅰ / short stature / growth hormone replacement therapy / tumor

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PAN Dan-ping, LU Xiang-peng, DUAN Feng-yang, WANG Zhi-ru, YAO Xian-hua, MA Bing-xiang, YANG Yan-ling, ZHENG Hong. Pedigree analysis on three cases with short stature due to neurofibromatosis type Ⅰ[J]. Chinese Journal of Child Health Care. 2018, 26(4): 418-420 https://doi.org/10.11852/zgetbjzz2018-26-04-19

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