Disease relevance of Choanal Atresia

• One had left choanal atresia, retinal coloboma, a single central maxillary incisor, microcephaly, short stature, and learning problems [1].
• In humans, mutations of the gene encoding for thyroid transcription factor-2 (TTF-2) result in the Bamforth syndrome, characterized by thyroid agenesis, cleft palate, spiky hair, and choanal atresia [2].
• We report on a 3-year-old boy with bilateral choanal atresia, hypoplastic nipples, and developmental delay who had been exposed to carbimazole in utero because of maternal Graves disease [3].
• Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia [4].
• An interesting feature is the unusual association of bilateral bony choanal atresia, atrial septal defect, cleft lip, absence of olfactory bulbs in the brain, and congenital ophthalmic anomalies [5].

Psychiatry related information on Choanal Atresia

• This boy was known to have CHARGE syndrome with multiple congenital anomalies, including coloboma, ventricular septal defect, choanal atresia, growth and mental retardation, bilateral cryptorchidism, dysplasia of the right ear, cleft lip, and hydrocephalus [6].

High impact information on Choanal Atresia

• Raldh3 knockout notably causes choanal atresia (CA), which is responsible for respiratory distress and death of Raldh3-null mutants at birth [7].
• Nevertheless, the findings of excess NTDs, oral clefts, cardiac defects, and choanal atresia in studies that evaluated TCE-contaminated drinking water deserve follow-up [8].
• We present the fourth published case of a child affected with choanal atresia following maternal treatment with carbimazole [9].
• Choanal atresia and hypothelia following methimazole exposure in utero: a second report [3].
• We report on a 4-1/2 year old girl with apparent CHARGE association who had a de novo inverted duplication (14)(q22-->24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures [10].

Chemical compound and disease context of Choanal Atresia

• Choanal atresia and athelia: methimazole teratogenicity or a new syndrome [11]?
• Radiographic diagnosis of choanal atresia induced prenatally with triamcinolone in the baboon (Papio cynocephalus) [12].
• Trans-nasal endoscopic holmium: YAG laser correction of choanal atresia [13].

Biological context of Choanal Atresia

• CHARGE association is the non-random association of congenital anomalies, including colobomata of the eyes, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia and ear abnormalities [14].

Gene context of Choanal Atresia

• Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1 [15].
• Kallmann syndrome associated with choanal atresia [16].
• Allergic rhinitis and choanal atresia also should be considered [17].
• Choanal atresia and its associated anomalies. Further support for the CHARGE Association [18].
• An update on choanal atresia surgery at Great Ormond Street Hospital for Children: preliminary results with Mitomycin C and the KTP laser [19].

References