Li Fang, Ma Hong-Wei, Song Ying, Hu Man, Ren Shuang, Yu Ya-Fen, Zhao Gui-Jie
Department of Developmental Pediatrics, Shengjing Hospital of China Medical University, Shenyang 110004, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):932-6.
To analyze the clinical manifestations, bone X-ray findings and genetic analysis results of three short-limb inherited short stature diseases: achondroplasia (ACH), hypochondroplasia (HCH) and pseudoachondroplasia (PSACH).
The clinical manifestations, bone X-ray findings, and genetic analysis results of 10 children with genetically confirmed short-limb inherited short stature diseases, including 4 cases of ACH 3 cases of HCH, and 3 cases of PSACH, were analyzed.
The 10 patients had a mean body height of -3.69±1.79 SD, a mean sitting height/standing height ratio of 0.65±0.03, and a mean finger spacing/body height ratio of 0.93±0.04. Four ACH cases and 3 PSACH cases showed typical bone X-ray findings; one HCH case showed a smaller sciatic notch, and another HCH case showed no widening of interpedicular distance. G380R mutation in FGFR3 gene was detected in 3 of 4 ACH cases, and Y278C mutation in the other ACH case, N540K mutation in FGFR3 gene was detected in 3 HCH cases, and heterozygous mutations in COMP gene were detected in 3 PSACH cases.
Children with ACH and PSACH have severer short stature and skeletal deformities than children with HCH, who have mild, atypical clinical manifestations. Bone X-ray and genetic analysis are helpful for the diagnosis and differential diagnosis of the three diseases. The mutational hotspots in two genes are involved in the three diseases, which is conducive to clinical genetic diagnosis.
分析三种短肢型遗传性矮小疾病：软骨发育不全（ACH）、低软骨发育不全（HCH）和假性软骨发育不全（PSACH）的临床表现、骨骼X线表现及基因分析结果。
分析10例经基因确诊的短肢型遗传性矮小疾病患儿的临床表现、骨骼X线表现及基因分析结果，其中ACH 4例、HCH 3例、PSACH 3例。
10例患者平均身高为-3.69±1.79 SD，平均坐高/身高比为0.65±0.03，平均指间距/身高比为0.93±0.04。4例ACH患者和3例PSACH患者表现出典型的骨骼X线表现；1例HCH患者坐骨切迹较小，另1例HCH患者椎弓根间距未增宽。4例ACH患者中有3例检测到FGFR3基因G380R突变，另1例ACH患者检测到Y278C突变；3例HCH患者检测到FGFR3基因N540K突变；3例PSACH患者检测到COMP基因杂合突变。
ACH和PSACH患儿的身材矮小和骨骼畸形比HCH患儿更严重，HCH患儿临床表现轻微、不典型。骨骼X线检查和基因分析有助于这三种疾病的诊断和鉴别诊断。两种基因的突变热点与这三种疾病有关，有利于临床基因诊断。
