Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Choanal atresia

Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.

Micrognathia

Developmental hypoplasia of the mandible.

Total: 9

(per page)

PMID (PMCID)
28643921	FEMALE
	Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
	Rengasamy Venugopalan S, Farrow EG, Lypka M. Orthod Craniofac Res. 2017;20 Suppl 1:50-56.
	Patients with facial asymmetry, micrognathia, choanal atresia and microcephaly should be analyzed for variants in EFTUD2 gene.
27366450	OTHER
	Glidescope Video Laryngoscope Use for Tracheal Intubation in a Patient with CHARGE Syndrome.
	Sarcicek V, Mzrak A, ahin M, Goksu S, Gul R, Cesur M. Turk J Anaesthesiol Reanim. 2014;42(6):352-4.
	CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients.
15103720	MALE	Infant, Newborn
	Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies.
	Asamoah A, Nwankwo M, Kumar SP, Ezhuthachan SG, Van Dyke DL. Am J Med Genet A. 2004;127A(1):65-8.
	We describe a male infant with intra-uterine growth retardation and multiple congenital anomalies including prominent forehead, broad nasal bridge, hypertelorism, small upturned nose, flat philtrum, micrognathia, cleft hard palate, low-set and posteriorly rotated ears, short neck, micropenis, hypoplastic scrotum with prominent raphe and undescended testes, malformed lower extremities with contractures, bony protruberance of left thigh, bilateral absence of the fibula, bilateral equinovarus deformity with missing 4th toe on the right foot and short second fingers, congenital heart defect, renal anomalies, brain malformation, and bilateral choanal atresia.
12548740	FEMALE	Infant, Newborn
	Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1.
	Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA, Jabs EW, Hamosh A. Am J Med Genet A. 2003;117A(1):47-56.
	We describe a female neonate with a unique constellation of features including anophthalmia and cryptophthalmos, temporal remnant "eye tags," bilateral cleft lip, unilateral cleft palate, a proboscis with absent nasal septum, choanal atresia, micrognathia, square stoma, and bilateral external auditory canal atresia.
11314391	FEMALE	Infant, Newborn
	Complete congenital bony syngnathia in a case of oromandibular limb hypogenesis syndrome.
	Knoll B, Karas D, Persing JA, Shin J. J Craniofac Surg. 2000;11(4):398-404.
	We present a case of complete bony fusion of the maxilla and mandible associated with a cleft palate, hypoglossia, micrognathia, unilateral choanal atresia, and limb abnormalities as a feature of oromandibular limb hypogenesis syndrome.
7576899	FEMALE	Infant, Newborn
	Agnathia (severe micrognathia), aglossia and choanal atresia in an infant.
	Walker PJ, Edwards MJ, Petroff V, Wilson I, Temperley AD, Seabrook J. J Paediatr Child Health. 1995;31(4):358-61.
	Agnathia (severe micrognathia), aglossia and choanal atresia in an infant.
7849898	MALE	Infant
	[CHARGE association].
	Ben Becher S, Ganouni S, Cheour M, Bouaziz A, Boudhina T. Arch Pediatr. 1994;1(12):1115-7.
	Examination showed low-set ears, micrognathia, coloboma, left choanal atresia and genital hypoplasia.
2679090	MIXED_SAMPLE	Infant, Newborn
	Emerging phenotype of duplication (7p): a report of three cases and review of the literature.
	Milunsky JM, Wyandt HE, Milunsky A. Am J Med Genet. 1989;33(3):364-8.
	Characteristic manifestations include severe/profound psychomotor retardation, dolichocephaly or microbrachycephaly, gaping fontanels and wide sagittal and metopic sutures, hypertelorism, large apparently low-set ears, micrognathia, choanal atresia/stenosis, hyperextensible joints subject to dislocation, joint contractures, and a high rate of cardiac septal defects.
3997378	FEMALE	Infant, Newborn
	Choanal atresia and its associated anomalies. Further support for the CHARGE Association.
	Kaplan LC. Int J Pediatr Otorhinolaryngol. 1985;8(3):237-42.
	The following features were found to be associated with bilateral choanal atresia: significant structural heart disease (21%), postnatal growth retardation (36%), psychomotor retardation (19%), sensorineural deafness (21%), velopharyngeal discoordination (15%), micrognathia (12%), blocked tear duct (10%), high-arched palate (15%), and facial asymmetry (7%).