Kataoka Soromon, Sawai Hideaki, Yamada Hideto, Kanazawa Nozomi, Koyama Koji, Nishimura Gen, Morikawa Mamoru, Sakuragi Noriaki, Minakami Hisanori
Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Prenat Diagn. 2004 Jan;24(1):45-9. doi: 10.1002/pd.746.
Hypochondroplasia is an autosomal dominant skeletal dysplasia expressing postnatal onset of short stature with mild rhizomelic shortening of the limbs. This manifestation leads to restricted prenatal diagnosis of the disorder. We report here on a sporadic case of a hypochondroplastic baby, whose prenatal sonographic measurements were serially recorded from 19 weeks of gestation. Mild shortening of the limbs became manifest after 26 weeks of gestation. Biparietal diameter was within the normal range throughout gestation. Both parents were of average stature. A tentative diagnosis of a nonlethal short-limb skeletal dysplasia was made. At birth, the clinical manifestations of the neonate were not characteristic, but the radiographic features raised the possibility of hypochondroplasia. Molecular analyses revealed a C to G mutation at nucleotide 1659 of the fibroblast growth factor receptor 3 (FGFR3) gene, a common mutation in hypochondroplasia.
软骨发育不全是一种常染色体显性遗传性骨骼发育不良疾病，表现为出生后身材矮小，伴有四肢轻度近侧短小。这种表现导致该疾病的产前诊断受限。我们在此报告一例散发的软骨发育不全患儿病例，其产前超声测量数据从妊娠19周开始连续记录。妊娠26周后四肢出现轻度短小。整个妊娠期双顶径均在正常范围内。父母身高均为平均水平。初步诊断为非致死性短肢骨骼发育不良。出生时，新生儿的临床表现不具有特征性，但影像学特征提示软骨发育不全的可能性。分子分析显示成纤维细胞生长因子受体3（FGFR3）基因第1659位核苷酸由C突变为G，这是软骨发育不全的常见突变。
