先天性骨骼发育异常11例的临床特点和个例分析

Clinical features and case analysis of congenital skeletal dysplasia in 11 neonates

目的分析11例先天性骨骼发育异常新生儿的临床特点,并对窒息性胸廓发育不良(ATD)和斑点状软骨发育不良(CDP)这两类先天性骨骼发育异常病例进行个例分析,以提升产前诊断水平。方法复旦大学附属妇产科医院2010—2015年共收治先天性骨骼发育异常新生儿11例,收集其临床资料进行描述性的临床特点统计,并结合文献资料对ATD和CDP进行个例分析。结果 11例患儿中,男8例,女3例;足月儿8例,早产儿3例;产前检查中发现9例,出生后发现2例;平均出生胎龄为(37.6±2.2)周,平均出生体重为(2 978±854)g。孕母的平均年龄为(30.8±4.8)岁;初产妇4例,经产妇7例;4例有妊娠期合并症;6例有不良孕产史;1例有近亲婚史,1例有父系家族史。8例患儿存活,其中1例存在严重呼吸困难症状;3例患儿因家属放弃治疗后死亡。病因:软骨发育不良4例,其中ATD 1例,CDP 1例;先天性成骨发育不全(OI)2例,其中先天性成骨发育不全Ⅱ型(Vrojik's病)1例;VACTERL综合征1例;股骨、腓骨、髌骨、跟骨缺如1例;脊柱、肋骨发育异常1例;脊柱发育异常1例;手裂足裂畸形1例。个例分析:ATD属常染色体隐性遗传软骨发育不良性疾病,主要特征包括胸廓狭长、骨盆和四肢发育异常,伴呼吸系统异常;CDP为常染色体隐性遗传,临床表现形式多样,主要特征包括不规则钙化软骨、四肢发育异常。结论先天性骨骼发育异常新生儿疾病种类复杂,临床表现各异,预后不同,ATD、Vrojik's病预后差,CDP累及气管者易死亡。

Objective To summarize clinical characteristics of 11 neonates with skeletal dysplasia, especially asphyxiant thoracic dysplasia （ATD） and chondrodysplasia punctata （CDP）, so as to improve prenatal diagnosis. Methods Clinical features of 11 neonates admitted to our hospital from 2010 to 2015 were descriptively analyzed. In combination with the documents, we studied ATD and CDP in detail. Results There were 8 males and 3 females. The neonates were full-term in 8 cases and premature in 3. Skeletal dysplasia was found in 9 cases in prenatal examination and in 2 cases after delivery. The average gestational age was （37.6 ± 2.2） weeks and average birth weight was （2 978±854） g. The average production age was （30.8±4.8） years old. There were 4 primipara and 7 multipara. There were 4 cases with pregnant complications, 6 cases with poor pregnant history, 1 case of family genetic intermarriage history, and 1 case of paternal line family history. Eight neonates survived （severe dyspnea occurred in one infant） and three died after giving up rescue. The causes of skeletal dysplasia.- 4 cases of achondroplasia （1 case of ATD and 1 case of CDP）, 2 caseS of osteogenesis imperfecta （I case of type Ⅱ osteogenesis imperfecta congenital, also called Vrojik＇s disease）, 1 case of VACTERL syndrome, 1 case of absence of femur., fibula, patella and calcaneus, 1 case of spinal and costal dysplasia, 1 cases of spinal dysplasia, and 1 case of split hand foot malformation （SHFM）. Case analysis= ATD was an autosomal recessive genetic cartilage dysplasia, in which narrow and long thoracic cage, pelvic and limb dysplasia, and respiratory abnormalities mainly present. CDP was an autosomal recessive hereditary disease. It had varied clinical manifestations, and main features including irregular cartilage calcification and limb dysplasia. Conclusion Congenital skeletal dysplasia of neonate presents complicated diversity, varied clinical features anddifferent prognosis. The prognosis is poor in the cases of ATD and Vrojik＇s disease. There is a high mortality in neonates with ODP in combination with tracheal dysplasia.