Peters H L, Bankier A
Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria, Australia.
J Med Genet. 1998 Nov;35(11):948-50. doi: 10.1136/jmg.35.11.948.
This case report describes a 4 year old boy with the unique triad of lipomatous myelomeningocele, congenital hypothyroidism secondary to thyroid agenesis, and sensorineural deafness. While associations between deafness and abnormal thyroid function and deafness and sacral lipoma have previously been described, the constellation of findings in this patient has not been reported.
本病例报告描述了一名4岁男孩，患有脂肪性脊髓脊膜膨出、甲状腺缺如继发的先天性甲状腺功能减退症和感音神经性耳聋这一独特三联征。虽然先前已有关于耳聋与甲状腺功能异常以及耳聋与骶部脂肪瘤之间关联的描述，但该患者的这一系列症状尚未见报道。
