Vuopala K, Ignatius J, Herva R
Department of Pathology, University of Oulu, Finland.
Hum Pathol. 1995 Jan;26(1):12-9. doi: 10.1016/0046-8177(95)90109-4.
Fifteen infants (11 families) with lethal arthrogryposis and anterior horn motor neuron loss are described. The clinical presentation was the fetal akinesia deformation sequence (FADS) with multiple contractures and facial anomalies. At autopsy neurogenic muscular atrophy was present in all infants. The spinal cord showed a paucity of anterior horn motor neurons in the 12 infants studied. Both male and female infants were affected. Nine cases were sporadic, whereas in two families there were three affected cases. Consanguinity between the parents was reported in one family with one affected child. This and the recurrence of the condition speak for autosomal recessive inheritance. Detailed neuropathological examination and documentation of the clinical features are needed for a better delineation of and genetic counseling for perinatally lethal arthrogryposis.
本文描述了15例患有致死性关节挛缩症和前角运动神经元缺失的婴儿（来自11个家庭）。临床表现为伴有多处挛缩和面部畸形的胎儿运动减少变形序列（FADS）。尸检发现所有婴儿均存在神经源性肌肉萎缩。在研究的12例婴儿中，脊髓显示前角运动神经元数量稀少。男女婴儿均受影响。9例为散发病例，而在两个家庭中有3例患病。在一个有1名患病儿童的家庭中，报告了父母之间的近亲关系。这一点以及该病的复发提示为常染色体隐性遗传。为了更好地描述围生期致死性关节挛缩症并提供遗传咨询，需要进行详细的神经病理学检查和临床特征记录。
