Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
Department of Pediatrics Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
JNMA J Nepal Med Assoc. 2020 Feb;58(222):119-121. doi: 10.31729/jnma.4846.
Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead causing vaginal delivery difficult. A twenty-one years old multipara mother gave birth to a baby with achondroplasia via spontaneous vaginal delivery with episiotomy without any complication. Achondroplasia, in this case, was diagnosed on the basis of antenatal ultrasonography finding, clinical features and radiological finding of the baby. He was admitted in the special baby care unit for observation and discharged on the next day as no complications were noted. Keywords: achondroplasia; dwarfism; ultrasonography.
常染色体显性突变纤维细胞生长因子受体 3 导致软骨发育不全症，这是人类最常见的侏儒症形式。软骨发育不全症是一种遗传性疾病，导致四肢的骨干缩短。头部通常较大，前额突出，导致阴道分娩困难。一位 21 岁的经产妇母亲经自然阴道分娩，会阴侧切，无任何并发症，产下一名软骨发育不全症婴儿。在这种情况下，根据产前超声检查结果、婴儿的临床特征和放射学发现，诊断为软骨发育不全症。他被收入特殊婴儿护理单元观察，并于第二天出院，因为没有发现并发症。关键词：软骨发育不全症；侏儒症；超声检查。
