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Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case.
J Korean Med Sci. 1998 Apr; 13(2):201-6.JK

Abstract

Short rib-polydactyly syndrome (SRPS) is a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs. We report a case of type IV SRPS with uncommon associations of polydactyly and bilateral polycystic kidneys, in a 28 week old female fetus. She was born dead to a 28 year old mother, showing a hydropic change, narrow thorax, and shortened limbs with postaxial heptasyndactyly of both hands and feet. Radiologic examination revealed short horizontal ribs, curved short tubular limb bones, small ilia and scapula, and a mild vertebral abnormality. Postmortem examination disclosed pulmonary hypoplasia, pancreatic cysts, hepatic fibrosis, and left persistent superior vena cava. In addition this case had bilateral huge polycystic renal dysplasia that was seldom described in any type of SRPS. Histologic sections of the vertebrae disclosed abnormal enchondral ossification with irregular and retarded hypertrophic zone.

Authors+Show Affiliations

Department of Pathology, Dankook University, College of Medicine, Cheonan, Chungnam, Korea.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9610623

Citation

Myong, N H., et al. "Short-rib Polydactyly Syndrome, Beemer-Langer Type, With Bilateral Huge Polycystic Renal Dysplasia: an Autopsy Case." Journal of Korean Medical Science, vol. 13, no. 2, 1998, pp. 201-6.
Myong NH, Park JW, Chi JG. Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case. J Korean Med Sci. 1998;13(2):201-6.
Myong, N. H., Park, J. W., & Chi, J. G. (1998). Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case. Journal of Korean Medical Science, 13(2), 201-6.
Myong NH, Park JW, Chi JG. Short-rib Polydactyly Syndrome, Beemer-Langer Type, With Bilateral Huge Polycystic Renal Dysplasia: an Autopsy Case. J Korean Med Sci. 1998;13(2):201-6. PubMed PMID: 9610623.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case. AU - Myong,N H, AU - Park,J W, AU - Chi,J G, PY - 1998/6/4/pubmed PY - 1998/6/4/medline PY - 1998/6/4/entrez SP - 201 EP - 6 JF - Journal of Korean medical science JO - J Korean Med Sci VL - 13 IS - 2 N2 - Short rib-polydactyly syndrome (SRPS) is a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs. We report a case of type IV SRPS with uncommon associations of polydactyly and bilateral polycystic kidneys, in a 28 week old female fetus. She was born dead to a 28 year old mother, showing a hydropic change, narrow thorax, and shortened limbs with postaxial heptasyndactyly of both hands and feet. Radiologic examination revealed short horizontal ribs, curved short tubular limb bones, small ilia and scapula, and a mild vertebral abnormality. Postmortem examination disclosed pulmonary hypoplasia, pancreatic cysts, hepatic fibrosis, and left persistent superior vena cava. In addition this case had bilateral huge polycystic renal dysplasia that was seldom described in any type of SRPS. Histologic sections of the vertebrae disclosed abnormal enchondral ossification with irregular and retarded hypertrophic zone. SN - 1011-8934 UR - https://www.unboundmedicine.com/medline/citation/9610623/Short_rib_polydactyly_syndrome_Beemer_Langer_type_with_bilateral_huge_polycystic_renal_dysplasia:_an_autopsy_case_ L2 - https://jkms.org/DOIx.php?id=10.3346/jkms.1998.13.2.201 DB - PRIME DP - Unbound Medicine ER -