Maisonneuve J, Armand J P, Louis J J, Guibaud P
Pediatrie. 1984 Jun;39(4):273-7.
In a 3 1/2 month old child with micromelic dwarfism, a case of dyssegmental dwarfism is reported. This affection is characterized, on one hand, by a shortening and a squat aspect of long bones with diaphyseal curve, and on the other hand, by a trouble of vertebral segmentation associated to a variability in the size of vertebral bodies. The differential diagnosis appears adequate to differentiate the dyssegmental dwarfism from other types of neonatal chondrodysplasia, in particular from Kniest syndrome and micrognathia dwarfism.
报告了一例3个半月大患有短肢侏儒症的儿童,其患有节段性侏儒症。这种病症一方面表现为长骨缩短且呈蹲伏状,伴有骨干弯曲,另一方面表现为椎体节段异常,同时椎体大小存在差异。鉴别诊断似乎足以将节段性侏儒症与其他类型的新生儿软骨发育不良区分开来,特别是与克尼斯特综合征和小颌侏儒症相区分。