A dominant-hereditary variation of the Pena-Shokeir syndrome; a case report

Eur J Obstet Gynecol Reprod Biol. 1991 Jul 1;40(2):163-5. doi: 10.1016/0028-2243(91)90110-7.

Abstract

Four children with the Pena-Shokeir syndrome are described. Apart from the classical manifestations of the syndrome: camptodactyly, ankyloses, facial anomalies, pulmonary hypoplasia, all four children had an extremely rigid skin. Possibly this rigidness of unknown origin led in these cases to fetal akinesia, which seems to be the explanation of the clinical manifestations of the syndrome. All children were born to one man, three in his first marriage, one in his second. Therefore this case report almost certainly presents a dominant-hereditary variation of the syndrome.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adult
  • Arthrogryposis / pathology*
  • Female
  • Fetal Movement
  • Genes, Dominant*
  • Humans
  • Hypospadias / pathology*
  • Infant, Newborn
  • Lung / abnormalities*
  • Male
  • Polyhydramnios / diagnostic imaging
  • Polyhydramnios / etiology*
  • Pregnancy
  • Retrognathia / pathology*
  • Skin Abnormalities*
  • Syndrome
  • Ultrasonography