3M 综合征 1
别名(英)
3M syndrome-1,Dolichospondylic dysplasia,Gloomy face syndrome,Le Merrer syndrome,Miller-McKusick-Malvaux syndrome,Three M syndrome,Three M syndrome 1,Yakut short stature syndrome
别名
3M 综合征-1，多脊椎发育不良，阴沉脸综合征，Le Merrer 综合征，Miller-McKusick-Malvaux 综合征，三 M 综合征，三 M 综合征 1，Yakut 身材矮小综合征
统计
reviewed:1; annotated:0
交叉引用
273750,C1848862,C2678312,D004392
描述(英)
An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.
描述
一种常染色体隐性遗传疾病，其特征是严重的产前和产后发育迟缓、面部畸形、头围大、智力和内分泌功能正常。骨骼变化包括细长的管状骨和高大的椎体。