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Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs.
Am J Med Genet. 1991 Dec 15; 41(4):475-7.AJ

Abstract

We report on 2 sibs with a similar MCA pattern consisting of generalized lymphedema, cervical lymphocele, shortness of limbs, bowed long bones, and multicystic kidneys with fibrotic liver or pancreas. To our knowledge, this is the second observation of such a combination of defects in sibs, and it confirms the existence of the syndrome reported by Cumming et al. [1986] and its autosomal recessive inheritance.

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Authors+Show Affiliations

Urioste M
Hospital Universitario San Carlos y ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Arroyo A
No affiliation info available
Martínez-Frías ML
No affiliation info available

MeSH

Abnormalities, MultipleFemaleGenes, RecessiveHumansInfant, NewbornLimb Deformities, CongenitalLiverLymphoceleMalePancreasPolycystic Kidney, Autosomal RecessiveSyndrome

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

1776641

Citation

Urioste, M, et al. "Campomelia, Polycystic Dysplasia, and Cervical Lymphocele in Two Sibs." American Journal of Medical Genetics, vol. 41, no. 4, 1991, pp. 475-7.
Urioste M, Arroyo A, Martínez-Frías ML. Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs. Am J Med Genet. 1991;41(4):475-7.
Urioste, M., Arroyo, A., & Martínez-Frías, M. L. (1991). Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs. American Journal of Medical Genetics, 41(4), 475-7.
Urioste M, Arroyo A, Martínez-Frías ML. Campomelia, Polycystic Dysplasia, and Cervical Lymphocele in Two Sibs. Am J Med Genet. 1991 Dec 15;41(4):475-7. PubMed PMID: 1776641.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs. AU - Urioste,M, AU - Arroyo,A, AU - Martínez-Frías,M L, PY - 1991/12/15/pubmed PY - 1991/12/15/medline PY - 1991/12/15/entrez SP - 475 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 41 IS - 4 N2 - We report on 2 sibs with a similar MCA pattern consisting of generalized lymphedema, cervical lymphocele, shortness of limbs, bowed long bones, and multicystic kidneys with fibrotic liver or pancreas. To our knowledge, this is the second observation of such a combination of defects in sibs, and it confirms the existence of the syndrome reported by Cumming et al. [1986] and its autosomal recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1776641/Campomelia_polycystic_dysplasia_and_cervical_lymphocele_in_two_sibs_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=41&issue=4&spage=475 DB - PRIME DP - Unbound Medicine ER -