Tags

Type your tag names separated by a space and hit enter

Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.
Am J Med Genet. 1993 Sep 15; 47(4):550-5.AJ

Abstract

Brothers were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12-q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome.

Authors+Show Affiliations

Pennsylvania State University College of Medicine, Department of Pediatrics, Hershey 17033.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7504881

Citation

Ladda, R L., et al. "Congenital Contractures, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Impairment: a Distinct Syndrome." American Journal of Medical Genetics, vol. 47, no. 4, 1993, pp. 550-5.
Ladda RL, Zonana J, Ramer JC, et al. Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome. Am J Med Genet. 1993;47(4):550-5.
Ladda, R. L., Zonana, J., Ramer, J. C., Mascari, M. J., & Rogan, P. K. (1993). Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome. American Journal of Medical Genetics, 47(4), 550-5.
Ladda RL, et al. Congenital Contractures, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Impairment: a Distinct Syndrome. Am J Med Genet. 1993 Sep 15;47(4):550-5. PubMed PMID: 7504881.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome. AU - Ladda,R L, AU - Zonana,J, AU - Ramer,J C, AU - Mascari,M J, AU - Rogan,P K, PY - 1993/9/15/pubmed PY - 1993/9/15/medline PY - 1993/9/15/entrez SP - 550 EP - 5 JF - American journal of medical genetics JO - Am J Med Genet VL - 47 IS - 4 N2 - Brothers were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12-q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7504881/Congenital_contractures_ectodermal_dysplasia_cleft_lip/palate_and_developmental_impairment:_a_distinct_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=47&issue=4&spage=550 DB - PRIME DP - Unbound Medicine ER -