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Bilateral choanal atresia/stenosis

MedGen UID:
867503
Concept ID:
C4021884
Congenital Abnormality
HPO: HP:0200138

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBilateral choanal atresia/stenosis

Conditions with this feature

Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
MedGen UID:
325265
Concept ID:
C1837822
Disease or Syndrome
TXNL4A-related craniofacial disorders comprise a range of phenotypes that includes: isolated choanal atresia; choanal atresia with minor anomalies; and Burn-McKeown syndrome (BMKS), which is characterized by typical craniofacial features (bilateral choanal atresia/stenosis, short palpebral fissures, coloboma of the lower eyelids, prominent nasal bridge with widely spaced eyes, short philtrum, thin vermilion of the upper lip, and prominent ears). Hearing loss is common and cardiac defects and short stature have been reported. Intellectual disability is rare.

Professional guidelines

PubMed

Saraniti C, Santangelo M, Salvago P
Braz J Otorhinolaryngol 2017 Mar-Apr;83(2):183-189. Epub 2016 Apr 22 doi: 10.1016/j.bjorl.2016.03.009. PMID: 27174773Free PMC Article
Newman JR, Harmon P, Shirley WP, Hill JS, Woolley AL, Wiatrak BJ
JAMA Otolaryngol Head Neck Surg 2013 Jan;139(1):71-5. doi: 10.1001/jamaoto.2013.1111. PMID: 23329094
Pototschnig C, Völklein C, Appenroth E, Thumfart WF
Ann Otol Rhinol Laryngol 2001 Apr;110(4):335-9. doi: 10.1177/000348940111000408. PMID: 11307909

Recent clinical studies

Etiology

Cozzi F, Steiner M, Rosati D, Madonna L, Colarossi G
J Pediatr Surg 1988 Mar;23(3):203-6. doi: 10.1016/s0022-3468(88)80722-x. PMID: 3357133

Diagnosis

Cozzi F, Steiner M, Rosati D, Madonna L, Colarossi G
J Pediatr Surg 1988 Mar;23(3):203-6. doi: 10.1016/s0022-3468(88)80722-x. PMID: 3357133

Prognosis

Cozzi F, Steiner M, Rosati D, Madonna L, Colarossi G
J Pediatr Surg 1988 Mar;23(3):203-6. doi: 10.1016/s0022-3468(88)80722-x. PMID: 3357133

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