European Journal of Pediatrics

, Volume 150, Issue 9, pp 656–660 | Cite as

A family with severe X-linked arthrogryposis

  • R. C. M. Hennekam
  • P. G. Barth
  • W. Van Lookeren Campagne
  • M. De Visser
  • K. P. Dingemans
Medical Genetics


Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The sole living child has severe psychomotor retardation. Several female carriers show mild features (clubfeet, contractures, hyperkyphosis, and slight muscle weakness). One manifesting carrier is affected more severely (multiple contractures, mental retardation, and various dysmorphic features). Additional investigations including muscle biopsy revealed none of the usual signs of denervation, and pointed to the presence of a degenerative muscle disorder.

Key words

Arthrogryposis Congenital X-linked Degenerative myopathy 



occipito-frontal circumference


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  1. 1.
    Banker B, Victor M, Adams RD (1957) Arthrogryposis multiplex. Brain 80:319–334PubMedGoogle Scholar
  2. 2.
    Carpenter S, Karpati G, Andermann F (1972) Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy. Neurology 22:170–186PubMedGoogle Scholar
  3. 3.
    Dubowitz V (1985) Muscle biopsy. A practical approach. Bailliere Tindall, London, pp 298–464Google Scholar
  4. 4.
    Greenberg F, Fenolio KR, Hejtmancik JF, Armstrong D, Willis JK, Shapira E, Huntington HW, Haun RL (1988) X-linked infantile spinal muscular atrophy. Am J Dis Child 142:217–219PubMedGoogle Scholar
  5. 5.
    Hall JG, Reed SD, Scott CI, Rogers JG, Jones KL, Camarano A (1982) Three distinct types of X-linked arthrogryposis seen in 6 families. Clin Genet 21:81–97PubMedGoogle Scholar
  6. 6.
    Opitz JM, Pullarkat RK (eds) (1988) Ceroid-lipofuscinoses. Batten disease and allied disorders. Am J Med Genet [Suppl] 5:1–307Google Scholar
  7. 7.
    Ramakumar L, Sood SC (1961) Arthrogryposis multiplex congenita with Pierre Robin syndrome. Ind J Pediatr 28:172–173Google Scholar
  8. 8.
    Short JK (1963) Congenital muscular dystrophy. Neurology 13:526–530PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • R. C. M. Hennekam
    • 1
  • P. G. Barth
    • 2
  • W. Van Lookeren Campagne
    • 5
  • M. De Visser
    • 3
  • K. P. Dingemans
    • 4
  1. 1.Clinical Genetics Centre UtrechtUtrechtThe Netherlands
  2. 2.Department of Paediatric NeurologyUniversity of AmsterdamAmsterdamThe Netherlands
  3. 3.Department of NeurologyUniversity of AmsterdamAmsterdamThe Netherlands
  4. 4.Department of PathologyUniversity of AmsterdamAmsterdamThe Netherlands
  5. 5.Department of PaediatricsWillem Alexander Hospital'sHertogenboschThe Netherlands

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