Sombekke B H, Molenaar W M, van Essen A J, Schoots C J
Department of Pathology, University of Groningen, The Netherlands.
Pediatr Pathol. 1994 Mar-Apr;14(2):277-85. doi: 10.3109/15513819409024260.
Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multiplex congenita, severe muscle wasting, lung hypoplasia, and hydrops. The muscle biopsies showed fibrosis, variation in fiber size, and extensive fat replacement compatible with muscular dystrophy. Fatal CMD seems to be distinct from CMD with survival after birth and is probably autosomal recessively inherited.
先天性肌营养不良（CMD）是一组异质性的肌肉疾病。我们报告了两例患有早期致死性CMD的死产同胞以及一名早产男婴，该男婴出生后几分钟内死亡。这些妊娠均合并羊水过多。所有患儿均表现为多发性先天性关节挛缩、严重肌肉萎缩、肺发育不全和水肿。肌肉活检显示纤维化、纤维大小不一以及广泛的脂肪替代，符合肌营养不良的表现。致死性CMD似乎与出生后存活的CMD不同，可能为常染色体隐性遗传。
