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Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia
M A Ramos-Arroyo1, A Valiente, E Rodriguez-Toral
1Servicio de Genética, Hospital Virgen del Camino, Pamplona, Spain. ma.ramos.arroyo@cfnavarra.es
Insights
This study identifies a potential new autosomal dominant disorder characterized by choanal atresia and craniofacial abnormalities, possibly linked to neural crest defects.
Area of Science:
- Genetics
- Craniofacial Biology
- Developmental Biology
Background:
- Bilateral choanal atresia is a congenital nasal obstruction.
- Neural crest cells play a crucial role in craniofacial development.
Observation:
- Two siblings and a cousin presented with bilateral choanal atresia.
- Affected individuals exhibited a tall forehead, maxillary hypoplasia, prognathism, and dental anomalies.
- Family history revealed similar craniofacial features in other relatives.
Findings:
- The condition appears to be inherited in an autosomal dominant pattern.
- Incomplete penetrance and variable expressivity were noted within the family.
- A potential defect in neural crest development is implicated.
Implications:
- This may represent a newly recognized genetic syndrome.
- Further research is needed to elucidate the specific genetic cause and developmental mechanisms.
- Understanding this condition can aid in diagnosis and management of similar craniofacial disorders.
Abstract:
We report on two sibs and a cousin with bilateral choanal atresia. At 2 months, one sib died of complications following surgical correction of her defects. We evaluated her brother and cousin at age 7 and 9 years, respectively. Both had a tall forehead, maxillary hypoplasia, prognathism, and absence of certain deciduous and permanent teeth. Psychomotor development was appropriate for age. Roentgenocephalometric analyses of several relatives showed that one grandfather of these children and two of the five uncles and aunts also had maxillary hypoplasia and/or prognathism. To our knowledge, this condition has not been described previously and may represent a newly recognized autosomal dominant condition with incomplete penetrance and variable expressivity caused by a defect of neural crest development.
