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软骨发育不全性侏儒(Achondropla-sia)又称软骨营养障碍,本病是遗传性疾病,其遗传方式为常染色体不完全显性遗传,现将三家五份病例报告分析于下。病例报告1.患儿先证者,商××,女,11岁,剖腹产,出生时体重5.5公斤。现身高99.5厘米,体重20.0公斤,头围57厘米,胸围55厘米,上部量61.5厘米,下部量38.0厘米。出生时母龄21岁,父龄33岁。2.患儿之父商××,也是软骨发育不全性侏儒,现44岁,身高129厘米,体重44公斤,头围60.0厘米,胸围76.0厘米,上部量80.0厘米,下部量49.0厘
Achondroplasia, also known as cartilage dystrophy, the disease is a hereditary disease, the inheritance of autosomal dominant inheritance is not completely inherited, now the report of three five cases in the next analysis. Case report 1. Children with proband, business × ×, female, 11 years old, caesarean section, birth weight 5.5 kg. Height 99.5 cm, weighing 20.0 kg, head circumference of 57 cm, bust 55 cm, the upper amount of 61.5 cm, the lower amount of 38.0 cm. Birth age of 21 years old, 33-year-old father. 2 children with the father to × ×, is also achondroplasia dwarf, now 44 years old, height 129 cm, weight 44 kg, head circumference 60.0 cm, bust 76.0 cm, the upper 80.0 cm, the lower 49.0%