Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature

Am J Med Genet. 1992 Jun 1;43(3):539-47. doi: 10.1002/ajmg.1320430308.

Abstract

Restrictive dermopathy is a rare, lethal autosomal recessive syndrome. We report on 3 unrelated affected stillborn infants of consanguineous parents. Clinical findings include a tight, thin, translucent, taut skin, which tears spontaneously in flexion creases, arthrogryposis multiplex congenita (including the temporomandibular joint), enlarged fontanelles, typical face and dysplasia of clavicles and long bones. Histologic abnormalities include hyperplastic, abnormally keratinized epidermis, reduced tonofilaments, thin, compact dermis with hypoplasia of the elastic fibres, and abnormal subcutaneous fat. Fifteen previous cases are reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Arthrogryposis* / genetics
  • Biopsy
  • Bone Diseases, Developmental* / diagnostic imaging
  • Bone Diseases, Developmental* / genetics
  • Face / abnormalities
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Polyhydramnios
  • Radiography
  • Skin Abnormalities*
  • Syndrome