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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.<\/jats:p>","DOI":"10.1002\/ajmg.1320240408","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:06:12Z","timestamp":1118520372000},"page":"631-648","source":"Crossref","is-referenced-by-count":89,"title":["Restrictive dermopathy: A newly recognized autosomal recessive skin dysplasia"],"prefix":"10.1002","volume":"24","author":[{"given":"David R.","family":"Witt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Hayden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen A.","family":"Holbrook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly 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