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Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs.
Am J Med Genet. 1991 Jan; 38(1):25-8.AJ

Abstract

A term amelic female infant was born to an apparently nonconsanguineous Arab Moslem couple. This was followed by the birth of 4 normal children. Afterwards, in 2 subsequent pregnancies, 2 amelic fetuses were diagnosed by transabdominal ultrasonography in the 18th and 12th week of gestation. Pregnancies were terminated and on autopsy both amelic fetuses had severe lung hypoplasia and aplasia of the peripheral pulmonary vessels. The first fetus also had apparently low-set ears and micrognathia, whereas the last had hydrocephaly and left cleft lip beside the lung hypoplasia and aberrant pulmonary artery. This appears to be a new autosomal recessive malformation syndrome.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Bikur Cholim Hospital, Jerusalem, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2012129

Citation

Rosenak, D, et al. "Recurrent Tetraamelia and Pulmonary Hypoplasia With Multiple Malformations in Sibs." American Journal of Medical Genetics, vol. 38, no. 1, 1991, pp. 25-8.
Rosenak D, Ariel I, Arnon J, et al. Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs. Am J Med Genet. 1991;38(1):25-8.
Rosenak, D., Ariel, I., Arnon, J., Diamant, Y. Z., Ben Chetrit, A., Nadjari, M., Zilberman, R., Yaffe, H., Cohen, T., & Ornoy, A. (1991). Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs. American Journal of Medical Genetics, 38(1), 25-8.
Rosenak D, et al. Recurrent Tetraamelia and Pulmonary Hypoplasia With Multiple Malformations in Sibs. Am J Med Genet. 1991;38(1):25-8. PubMed PMID: 2012129.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs. AU - Rosenak,D, AU - Ariel,I, AU - Arnon,J, AU - Diamant,Y Z, AU - Ben Chetrit,A, AU - Nadjari,M, AU - Zilberman,R, AU - Yaffe,H, AU - Cohen,T, AU - Ornoy,A, PY - 1991/1/1/pubmed PY - 1991/1/1/medline PY - 1991/1/1/entrez SP - 25 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 38 IS - 1 N2 - A term amelic female infant was born to an apparently nonconsanguineous Arab Moslem couple. This was followed by the birth of 4 normal children. Afterwards, in 2 subsequent pregnancies, 2 amelic fetuses were diagnosed by transabdominal ultrasonography in the 18th and 12th week of gestation. Pregnancies were terminated and on autopsy both amelic fetuses had severe lung hypoplasia and aplasia of the peripheral pulmonary vessels. The first fetus also had apparently low-set ears and micrognathia, whereas the last had hydrocephaly and left cleft lip beside the lung hypoplasia and aberrant pulmonary artery. This appears to be a new autosomal recessive malformation syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2012129/Recurrent_tetraamelia_and_pulmonary_hypoplasia_with_multiple_malformations_in_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=38&issue=1&spage=25 DB - PRIME DP - Unbound Medicine ER -