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

L. Shenker, Kathryn L Reed, C. Anderson, L. Hauck, R. Spark

Research output: Contribution to journalArticle

31 Citations (Scopus)

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
StatePublished - 1985

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Prenatal Diagnosis
Obstetrics
Arthrogryposis
Polyhydramnios
Pregnancy
Lung
Fetal Growth Retardation
Umbilical Cord
Apnea
Early Diagnosis
Extremities
Alopecia, epilepsy, pyorrhea, mental subnormality
Perinatal Death

ASJC Scopus subject areas

  • Medicine(all)
  • Obstetrics and Gynecology

Cite this

Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome) : Obstetric and ultrasound aspects. / Shenker, L.; Reed, Kathryn L; Anderson, C.; Hauck, L.; Spark, R.

In: American Journal of Obstetrics and Gynecology, Vol. 152, No. 3, 1985, p. 303-307.

Research output: Contribution to journalArticle

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