Woods C G, Pearce J L, Huson S M
Department of Medical Genetics, Churchill Hospital, Oxford, UK.
Clin Dysmorphol. 1992 Jul;1(3):179-81.
A male infant, whose parents were first cousins, was born with tense chylous ascites, mild generalized oedema and facial dysmorphism. The baby initially seemed well but subsequently probably aspirated, developed septicaemia and finally died at 26 days from a bleeding diathesis, possibly secondary to liver dysfunction. No cause for the chylous ascites was found at post mortem. This case is presumed to represent an example of recessively determined chylous ascites. The mouse mutant Chy may be an homologous condition.
一名男婴，其父母为近亲，出生时患有张力性乳糜腹水、轻度全身性水肿和面部畸形。婴儿最初看起来状况良好，但随后可能发生了误吸，患上败血症，最终在26天时因出血性素质（可能继发于肝功能障碍）死亡。尸检未发现乳糜腹水的病因。该病例被推测为隐性遗传的乳糜腹水的一个例子。小鼠突变体Chy可能与之同源。
