Syndrome of camptodactyly, ankyloses facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): Obstetric and ultrasound aspects

Lewis Shenker, Kathryn Reed, Caroline Anderson, Lynn Hauck, Ronald Spark

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31 Scopus citations

Abstract

Two siblings with Pena-Shokeir syndrome are described. This syndrome consists of polyhydramnios, intrauterine growth retardation, short umbilical cord, perinatal death, facial abnormalities, limb abnormalities including arthrogryposis, and lethal pulmonary hypoplasia. The mode of inheritance is most likely autosomal recessive. Prenatal diagnosis was made in the second pregnancy with ultrasound performed at 26 weeks' gestation. The roles of fetal akinesia and fetal apnea in the production of the various manifestations of the syndrome are detailed, and the possibility of early prenatal diagnosis is considered

Original languageEnglish (US)
Pages (from-to)303-307
Number of pages5
JournalAmerican journal of obstetrics and gynecology
Volume152
Issue number3
DOIs
StatePublished - Jan 1 1985

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Keywords

  • Pulmonary hypoplasia
  • limb deformities
  • polyhydramnios
  • short umbilical cord

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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