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Two brothers with Burn-McKeown syndrome
Dagmar Wieczorek1, Ozge Altug Teber, Dietmar Lohmann
1Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstr. 55, 45122 Essen, Germany. dagmar.wieczorek@uni-essen.de
Clinical Dysmorphology
|October 18, 2003
Summary
This study confirms Burn-McKeown syndrome in two brothers with choanal atresia and distinct facial features. Additional reported anomalies broaden the known clinical spectrum of this rare genetic condition.
Area of Science:
- Genetics
- Pediatrics
- Dysmorphology
Background:
- Burn-McKeown syndrome is a rare genetic disorder characterized by specific facial dysmorphic features and choanal atresia.
- Previous reports have described a core set of clinical manifestations associated with this syndrome.
Observation:
- Two brothers presented with normal intelligence, bilateral choanal atresia, and a characteristic pattern of facial dysmorphism.
- Observed features included hypertelorism, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with thin lips, and protruding ears.
Findings:
- The patients' features strongly resemble those previously described in Burn-McKeown syndrome, confirming its existence.
- New findings in these brothers include median cleft palate with oronasal fistula, preauricular tag, hypomimic face, and unilateral kidney hypoplasia.
Implications:
- This report expands the known clinical spectrum of Burn-McKeown syndrome.
- The additional features suggest a broader range of potential manifestations for this rare condition.
- Further research is warranted to fully delineate the genetic basis and phenotypic variability of Burn-McKeown syndrome.