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Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects.
Am J Obstet Gynecol. 1985 Jun 01; 152(3):303-7.AJ

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.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3890548

Citation

Shenker, L, et al. "Syndrome of Camptodactyly, Ankyloses, Facial Anomalies, and Pulmonary Hypoplasia (Pena-Shokeir Syndrome): Obstetric and Ultrasound Aspects." American Journal of Obstetrics and Gynecology, vol. 152, no. 3, 1985, pp. 303-7.
Shenker L, Reed K, Anderson C, et al. Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects. Am J Obstet Gynecol. 1985;152(3):303-7.
Shenker, L., Reed, K., Anderson, C., Hauck, L., & Spark, R. (1985). Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects. American Journal of Obstetrics and Gynecology, 152(3), 303-7.
Shenker L, et al. Syndrome of Camptodactyly, Ankyloses, Facial Anomalies, and Pulmonary Hypoplasia (Pena-Shokeir Syndrome): Obstetric and Ultrasound Aspects. Am J Obstet Gynecol. 1985 Jun 1;152(3):303-7. PubMed PMID: 3890548.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects. AU - Shenker,L, AU - Reed,K, AU - Anderson,C, AU - Hauck,L, AU - Spark,R, PY - 1985/6/1/pubmed PY - 1985/6/1/medline PY - 1985/6/1/entrez SP - 303 EP - 7 JF - American journal of obstetrics and gynecology JO - Am J Obstet Gynecol VL - 152 IS - 3 N2 - 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. SN - 0002-9378 UR - https://www.unboundmedicine.com/medline/citation/3890548/Syndrome_of_camptodactyly_ankyloses_facial_anomalies_and_pulmonary_hypoplasia__Pena_Shokeir_syndrome_:_obstetric_and_ultrasound_aspects_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9378(85)80216-7 DB - PRIME DP - Unbound Medicine ER -