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.
Links
MeSH
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 -