Tags

Type your tag names separated by a space and hit enter

New dysmorphic syndrome with choanal atresia in siblings.
Clin Dysmorphol. 1992 Jul; 1(3):137-44.CD

Abstract

We report five children from three families who presented with bilateral choanal atresia associated with a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids and a characteristic dysmorphic appearance. The children were of normal intelligence. This syndrome is distinct from CHARGE association.

Links

Aggregator Full Text

Authors+Show Affiliations

Burn J
Division of Human Genetics, University of Newcastle-upon-Tyne, UK.
McKeown C
No affiliation info available
Wagget J
No affiliation info available
Bray R
No affiliation info available
Goodship J
No affiliation info available

MeSH

Abnormalities, MultipleChildChild, PreschoolChoanal AtresiaChromosomes, Human, Pair 18DeafnessEarEye AbnormalitiesEyelidsFemaleHeart Defects, CongenitalHumansInfant, NewbornMaleRing ChromosomesSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1342861

Citation

Burn, J, et al. "New Dysmorphic Syndrome With Choanal Atresia in Siblings." Clinical Dysmorphology, vol. 1, no. 3, 1992, pp. 137-44.
Burn J, McKeown C, Wagget J, et al. New dysmorphic syndrome with choanal atresia in siblings. Clin Dysmorphol. 1992;1(3):137-44.
Burn, J., McKeown, C., Wagget, J., Bray, R., & Goodship, J. (1992). New dysmorphic syndrome with choanal atresia in siblings. Clinical Dysmorphology, 1(3), 137-44.
Burn J, et al. New Dysmorphic Syndrome With Choanal Atresia in Siblings. Clin Dysmorphol. 1992;1(3):137-44. PubMed PMID: 1342861.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New dysmorphic syndrome with choanal atresia in siblings. AU - Burn,J, AU - McKeown,C, AU - Wagget,J, AU - Bray,R, AU - Goodship,J, PY - 1992/7/1/pubmed PY - 1992/7/1/medline PY - 1992/7/1/entrez SP - 137 EP - 44 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 1 IS - 3 N2 - We report five children from three families who presented with bilateral choanal atresia associated with a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids and a characteristic dysmorphic appearance. The children were of normal intelligence. This syndrome is distinct from CHARGE association. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/1342861/New_dysmorphic_syndrome_with_choanal_atresia_in_siblings_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=1342861.ui DB - PRIME DP - Unbound Medicine ER -