Syndromes of camptodactyly, multiple ankylosis, facial anomalies, and pulmonary hypoplasia Article

cited authors

  • Elias, S; Boelen, L; Simpson, JL

fiu authors

abstract

  • In 1974 Pena and Shokeir reported on two sisters said to have a previously unrecognized syndrome characterized by facial anomalies (hypertelorism, malformed low-set ears, depressed nasal tip, micrognathia), pulmonary hypoplasia, camptodactyly, knee and hip ankylosis, and equinovarus. Both sibs died shortly after birth. Concurrently, Punnett et al reported on two unrelated infants with similar features. Pena and Shokeir subsequently described three additional patients, including male and female sibs, and concluded that an autosomal recessive gene causes a syndrome characterized by camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia. The authors describe a phenotypically similar case, report histologic data suggesting pathogenesis, and consider the relationship between disorders characterized by multiple flexion contractures.

publication date

  • December 1, 1978

start page

  • 243

end page

  • 251

volume

  • 14

issue

  • 6 B