Choanal Atresia, Posterior

Alternative Names

  • PCA
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the respiratory system

OMIM Number

608911

Mode of Inheritance

Probably a multifactorial trait, autosomal recessive inheritance also reported

Description

Choanal atresia is a rare developmental anomaly characterized by failure of communication of the posterior nasal cavity with the nasopharynx. It may be complete or incomplete, unilateral (60%) or bilateral (40%), bony (90%) or membranous (10%) or a combination of these.

The anomaly presents either immediately after birth as respiratory distress, or as a coincidental finding at an older age. The condition is the most common nasal abnormality, affecting in 1 out of every 7,000 to 8,000 live births, with a 2:1 female-to-male ratio.

Epidemiology in the Arab World

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Other Reports

Egypt

Sadek (1998) reported two females from a consanguineous family from Egypt with bilateral congenital choanal atresia. The patients also presented features of vitamin D resistant rickets. Their mother had beta-thalassemia minor.

Kuwait

Petkovska et al. (2007) identified seven children (five girls), including one of a monozygotic twin pair, with congenital choanal atresia during a 3-year period (2001-2004). Five of these patients had bilateral choanal atrsia, while in two it was unilateral. It was membranous and osseous in two patients each, and of mixed type in the remaining three. Two of the patients had an associated cleft palate, and one of these two had a right lung agenesia. Of the seven, two fit the criteria for CHARGE association.

Lebanon

Topley et al. 1995 described a Lebanese infant with choanal atresia who was born in the UAE for non-consanguineous parents [See UAE]. 

Palestine

Gershoni-Baruch (1992) described a small inbred Muslim kindred from Palestine in which non-syndromal choanal atresia occurred in two sibs and their paternal uncle. In a note added in proof, she reported the birth of a third affected sib.

Saudi Arabia

Rejjal et al., 1994 studied 23 patients with congenital choanal atresia (CCA) to determine the prevalence and range of associated brain abnormalities. In 17 patients, CCA was found to be associated with known syndromes or different congenital abnormalities, and in 6 patients, it was an isolated finding.

Syria

Sadek (1998) reported a Syrian male with bilateral congenital choanal atresia. The patient also presented features of congenital inguinal hernia and bilateral pre-auricular sinuses. His parents were second cousins and he had one brother with bilateral congenital choanal atresia. Two more brothers and three sisters were all normal.

United Arab Emirates

Topley et al (1995) identified three infants with choanal atresia and one infant with choanal stenosis who were born during a 5-month period at Tawam hospital in Al Ain.  Thus, file examination of the infants with choanal atresia in the past six years was performed at the same hospital.  Two other national infants were detected to have choanal atresia in the past six years who were not born in Tawam hospital.  

Sadek (1998) reported a male from the United Arab Emirates with bilateral congenital choanal atresia.  The patient was born to first cousin parents who were clinically normal.  His mother had five spontaneous abortions at 12 weeks, two babies who died at 5 months of age from congenital hydronephrosis, and two still births at 8 months gestation with multiple congenital anomalies.  He also had a sister with unilateral choanal atresia.

Yemen

In an inbred Yemenite family, Qazi et al. (1982) observed posterior choanal atresia in a brother and sister and their paternal aunt. All four parents of the three affected persons traced to a common ancestral couple 2-3 generations earlier. In 1998, Sadek reported two males and one female from a non-consanguineous Yemeni family with bilateral congenital choanal atresia. The patients and their mother all had features of Crouzon syndrome. There were three normal siblings in the family (two brothers and one sister).

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