Illum N, Reske-Nielsen E, Skovby F, Askjaer S A, Bernsen A
Department of Paediatrics, Rigshospitalet, Copenhagen, Denmark.
Neuropediatrics. 1988 Nov;19(4):186-92. doi: 10.1055/s-2008-1052443.
Three children from a sibship of four had congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death. Extensive deposits of calcium compounds were found at postmortem examination of the nervous system and of skeletal muscle. The disorder in these sibs is presumably inherited as an autosomal recessive trait. The metabolic basis for the calcium deposition has yet to be discovered.
一个四口之家的三个孩子患有先天性挛缩、面部表情稀少、中枢神经系统功能障碍，并早夭。在对神经系统和骨骼肌进行尸检时发现有大量钙化合物沉积。这些同胞所患疾病可能是以常染色体隐性性状遗传的。钙沉积的代谢基础尚待发现。
