Witt D R, Hayden M R, Holbrook K A, Dale B A, Baldwin V J, Taylor G P
Am J Med Genet. 1986 Aug;24(4):631-48. doi: 10.1002/ajmg.1320240408.
A brother and sister from consecutive pregnancies had rigid and tightly adherent skin in association with generalized contractures, unusual facies, pulmonary hypoplasia, an abnormal placenta, and a short umbilical cord. Both died shortly after birth. Pathologic examination of the skin by light and electron microscopy showed structural abnormalities of the epidermis, dermis, and subcutaneous fat. An abnormal pattern of keratin proteins was determined biochemically using extracted epidermal proteins. Autopsy showed a normal spinal cord and muscle histology. It is postulated that the defective skin severely restricted movement and secondarily led to the other abnormalities. Familial occurrence is most consistent with autosomal recessive transmission. These patients and the primary skin defect are discussed within the framework of the Fetal Akinesia or Hypokinesia Deformation Sequence.
一对来自连续妊娠的兄妹患有皮肤僵硬且紧密粘连，并伴有全身挛缩、面容异常、肺发育不全、胎盘异常和脐带短。两人均在出生后不久死亡。通过光学显微镜和电子显微镜对皮肤进行病理检查，发现表皮、真皮和皮下脂肪存在结构异常。利用提取的表皮蛋白进行生化分析，确定了角蛋白的异常模式。尸检显示脊髓和肌肉组织学正常。据推测，有缺陷的皮肤严重限制了运动，继而导致了其他异常。家族性发病最符合常染色体隐性遗传。在胎儿运动不能或运动减少变形序列的框架内讨论了这些患者和原发性皮肤缺陷。
