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Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?
Am J Med Genet. 1985 Jun; 21(2):271-7.AJ

Abstract

Pena and Shokeir [J Pediatr 85:373-375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena-Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena-Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

4040328

Citation

Toriello, H V., et al. "Sibs With the Fetal Akinesia Sequence, Fetal Edema, and Malformations: a New Syndrome?" American Journal of Medical Genetics, vol. 21, no. 2, 1985, pp. 271-7.
Toriello HV, Bauserman SC, Higgins JV. Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome? Am J Med Genet. 1985;21(2):271-7.
Toriello, H. V., Bauserman, S. C., & Higgins, J. V. (1985). Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome? American Journal of Medical Genetics, 21(2), 271-7.
Toriello HV, Bauserman SC, Higgins JV. Sibs With the Fetal Akinesia Sequence, Fetal Edema, and Malformations: a New Syndrome. Am J Med Genet. 1985;21(2):271-7. PubMed PMID: 4040328.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome? AU - Toriello,H V, AU - Bauserman,S C, AU - Higgins,J V, PY - 1985/6/1/pubmed PY - 1985/6/1/medline PY - 1985/6/1/entrez SP - 271 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 21 IS - 2 N2 - Pena and Shokeir [J Pediatr 85:373-375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena-Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena-Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/4040328/Sibs_with_the_fetal_akinesia_sequence_fetal_edema_and_malformations:_a_new_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1985&volume=21&issue=2&spage=271 DB - PRIME DP - Unbound Medicine ER -