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Two brothers with Burn-McKeown syndrome.
Clin Dysmorphol. 2003 Jul; 12(3):171-4.CD

Abstract

We report on two brothers with normal intelligence, bilateral choanal atresia, and a characteristic pattern of facial dysmorphic features consisting of hypertelorism, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with thin lips, and protruding ears. These features show striking similarity to patients with Burn-McKeown syndrome [Burn et al., 1992 Clin. Dysmorphol 1: 137-144] and confirm the existence of this rare condition. These brothers show some additional features that were not previously reported in patients with this syndrome including median cleft palate with oronasal fistula, preauricular tag, hypomimic face, and hypoplastic unilateral kidney, thus indicating that the clinical spectrum of this entity is broader.

Authors+Show Affiliations

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstr. 55, 45122 Essen, Germany. dagmar.wieczorek@uni-essen.deNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

14564154

Citation

Wieczorek, Dagmar, et al. "Two Brothers With Burn-McKeown Syndrome." Clinical Dysmorphology, vol. 12, no. 3, 2003, pp. 171-4.
Wieczorek D, Teber OA, Lohmann D, et al. Two brothers with Burn-McKeown syndrome. Clin Dysmorphol. 2003;12(3):171-4.
Wieczorek, D., Teber, O. A., Lohmann, D., & Gillessen-Kaesbach, G. (2003). Two brothers with Burn-McKeown syndrome. Clinical Dysmorphology, 12(3), 171-4.
Wieczorek D, et al. Two Brothers With Burn-McKeown Syndrome. Clin Dysmorphol. 2003;12(3):171-4. PubMed PMID: 14564154.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Two brothers with Burn-McKeown syndrome. AU - Wieczorek,Dagmar, AU - Teber,Ozge Altug, AU - Lohmann,Dietmar, AU - Gillessen-Kaesbach,Gabriele, PY - 2003/10/18/pubmed PY - 2004/3/17/medline PY - 2003/10/18/entrez SP - 171 EP - 4 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 12 IS - 3 N2 - We report on two brothers with normal intelligence, bilateral choanal atresia, and a characteristic pattern of facial dysmorphic features consisting of hypertelorism, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with thin lips, and protruding ears. These features show striking similarity to patients with Burn-McKeown syndrome [Burn et al., 1992 Clin. Dysmorphol 1: 137-144] and confirm the existence of this rare condition. These brothers show some additional features that were not previously reported in patients with this syndrome including median cleft palate with oronasal fistula, preauricular tag, hypomimic face, and hypoplastic unilateral kidney, thus indicating that the clinical spectrum of this entity is broader. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/14564154/Two_brothers_with_Burn_McKeown_syndrome_ L2 - https://doi.org/10.1097/01.mcd.0000072163.33788.c4 DB - PRIME DP - Unbound Medicine ER -