lipochondrodystrophy

• 一种常染色体隐性遗传的粘多糖代谢障碍性疾病，可导致骨骼软骨和骨骼严重发育异常以及智力障碍。

A hereditary autosomal recessive disorder involving a defect in mucopolysaccharide metabolism, leading to severe abnormalities in the development of skeletal cartilage and bone, as well as mental retardation.

不可数

1. Lipochondrodystrophyformalmedical

   An autosomal recessive hereditary disorder affecting mucopolysaccharide metabolism, leading to severe skeletal and cartilage deformities, bone abnormalities, and mental retardation.

   脂肪软骨营养不良

   • The child was diagnosed with lipochondrodystrophy shortly after birth due to abnormal skeletal development.
   • Genetic counseling is recommended for families with a history of lipochondrodystrophy.
   • Treatment for lipochondrodystrophy focuses on managing symptoms and supportive care.

   同义词gargoylism