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A new short rib syndrome: report of two cases.
Am J Med Genet. 1983 Jan; 14(1):115-23.AJ

Abstract

We describe two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities (with median cleft of the upper lip), narrow thorax, protuberant abdomen, and short, bowed limbs. Postmortem radiographs showed very short ribs and disproportionately short long tubular bones; no metaphyseal abnormalities were present. Comparison with earlier described short-rib/short-rib-polydactyly syndromes suggest that the disorder present in our two cases is a new type of short-rib syndrome. One of our patients was born to a consanguineous couple; in a subsequent pregnancy, real-time ultrasonography in the second trimester showed that the female fetus had the same abnormalities as its sib. Diagnosis was confirmed after elective abortion. This suggests that this short-rib syndrome may be an autosomal recessive disorder.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6829599

Citation

Beemer, F A., et al. "A New Short Rib Syndrome: Report of Two Cases." American Journal of Medical Genetics, vol. 14, no. 1, 1983, pp. 115-23.
Beemer FA, Langer LO, Klep-de Pater JM, et al. A new short rib syndrome: report of two cases. Am J Med Genet. 1983;14(1):115-23.
Beemer, F. A., Langer, L. O., Klep-de Pater, J. M., Hemmes, A. M., Bylsma, J. B., Pauli, R. M., Myers, T. L., & Haws, C. C. (1983). A new short rib syndrome: report of two cases. American Journal of Medical Genetics, 14(1), 115-23.
Beemer FA, et al. A New Short Rib Syndrome: Report of Two Cases. Am J Med Genet. 1983;14(1):115-23. PubMed PMID: 6829599.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new short rib syndrome: report of two cases. AU - Beemer,F A, AU - Langer,L O,Jr AU - Klep-de Pater,J M, AU - Hemmes,A M, AU - Bylsma,J B, AU - Pauli,R M, AU - Myers,T L, AU - Haws,C C,3rd PY - 1983/1/1/pubmed PY - 2001/3/28/medline PY - 1983/1/1/entrez SP - 115 EP - 23 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 14 IS - 1 N2 - We describe two unrelated malformed infants who died shortly after birth and who had multiple congenital anomalies including hydrops and ascites, facial abnormalities (with median cleft of the upper lip), narrow thorax, protuberant abdomen, and short, bowed limbs. Postmortem radiographs showed very short ribs and disproportionately short long tubular bones; no metaphyseal abnormalities were present. Comparison with earlier described short-rib/short-rib-polydactyly syndromes suggest that the disorder present in our two cases is a new type of short-rib syndrome. One of our patients was born to a consanguineous couple; in a subsequent pregnancy, real-time ultrasonography in the second trimester showed that the female fetus had the same abnormalities as its sib. Diagnosis was confirmed after elective abortion. This suggests that this short-rib syndrome may be an autosomal recessive disorder. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6829599/A_new_short_rib_syndrome:_report_of_two_cases_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=14&issue=1&spage=115 DB - PRIME DP - Unbound Medicine ER -