Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/kaufman-syndrome-hydrometrocolpos-polydactyly-and-congenital-heart-z033jwxCRv
References (13)
-
I Stojimirovic (1956)
Hidrometrokolpos novordencita, 3
-
RL Kaufman, AF Hartmann, WH McAlister (1972)
The Cardiovascular System, VIII
-
HE Cross, D Lerberg, V McKusick (1968)
Type II syndactyly, 20
-
M. Reed, N. Griscom (1973)
Hydrometrocolpos in infancy.The American journal of roentgenology, radium therapy, and nuclear medicine, 118 1
-
V. McKusick, R. Bauer, C. Koop, R. Scott (1964)
HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.JAMA, 189
-
A Nott, J Chabol (1959)
Hydrometrocolpos of the newborn, 58
-
J. Hall, Pallister Pd, S. Clarren, J. Beckwith, F. Wiglesworth, F. Fraser, S. Cho, P. Benke, S. Reed, John Optiz (1980)
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.American journal of medical genetics, 7 1
-
B. Hall (1979)
Choanal atresia and associated multiple anomalies.The Journal of pediatrics, 95 3
-
CI Dungy, R Aptekar, H Cann (1971)
Hydrometrocolpos and polydactyly, 47
-
JS Campbell, MB Zaida (1962)
Hematometrocolpos in newborn, 73
-
Meinhard Robinow, Anthony Shaw (1979)
The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease.The Journal of pediatrics, 94 5
-
RT Dooley (1962)
Hydrometrocolpos, 103
-
R. Dooley (1962)
Hydrometrocolpos, report of a case in a newborn infant.American journal of diseases of children, 103
- Publisher
- Wiley
- Copyright
- Copyright © 1981 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.1320080404
- pmid
- 7246610
- Publisher site
- See Article on Publisher Site
Abstract
An infant was found to have the previously known manifestations of the Kaufman syndrome (hydrometrocolpos, postaxial polydactyly, and congenital heart disease) but also imperforate anus, malrotation of gut, congenital hip dislocation, and urogenital sinus. All of these anomalies have been separately reported in other cases of the syndrome. Three previously unreported problems present in this case were choanal atresia, pituitary dysplasia, and vertebral anomalies; these may well be component manifestations of the syndrome and not sporadic occurrences in our patient. Of particular clinical importance were the hypoglycemia and the hypoglucocorticism secondary to the pituitary dysplasia.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 1981
Keywords: ; ; ; ; ;