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Pediatric Radiology
Erschienen in: Pediatric Radiology 7/2015

01.07.2015 | Pictorial Essay

CT and MRI of congenital nasal lesions in syndromic conditions

verfasst von: Daniel T. Ginat, Caroline D. Robson

Erschienen in: Pediatric Radiology | Ausgabe 7/2015

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Abstract

Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article.
Literatur
1.
2.
Etchevers HC, Couly G, Vincent C et al (1999) Anterior cephalic neural crest is required for forebrain viability. Development 126:3533–3543PubMed
3.
Som PM, Naidich TP (2013) Illustrated review of the embryology and development of the facial region, part 1: early face and lateral nasal cavities. AJNR Am J Neuroradiol 34:2233–2240PubMedCrossRef
4.
Som PM, Streit A, Naidich TP (2014) Illustrated review of the embryology and development of the facial region, part 3: an overview of the molecular interactions responsible for facial development. AJNR Am J Neuroradiol 35:223–229PubMedCrossRef
5.
Hengerer AS, Brickman TM, Jeyakumar A (2008) Choanal atresia: embryologic analysis and evolution of treatment, a 30-year experience. Laryngoscope 118:862–866PubMedCrossRef
6.
Nemzek WR, Brodie HA, Hecht ST et al (2000) MR, CT, and plain film imaging of the developing skull base in fetal specimens. AJNR Am J Neuroradiol 21:1699–1706PubMed
7.
Hedlund G (2006) Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging. Pediatr Radiol 36:647–662, quiz 726-727PubMedCrossRef
8.
9.
Nanni L, Ming JE, Du Y et al (2001) SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet 102:1–10PubMedCrossRef
10.
Tate JR, Sykes J (2009) Congenital nasal pyriform aperture stenosis. Otolaryngol Clin N Am 42:521–525CrossRef
11.
Belden CJ, Mancuso AA, Schmalfuss IM (1999) CT features of congenital nasal pyriform aperture stenosis: initial experience. Radiology 213:495–501PubMedCrossRef
12.
Lee KS, Yang CC, Huang JK et al (2002) Congenital pyriform aperture stenosis: surgery and evaluation with three-dimensional computed tomography. Laryngoscope 112:918–921PubMedCrossRef
13.
Van Den Abbeele T, Triglia JM, François M et al (2001) Congenital nasal pyriform aperture stenosis: diagnosis and management of 20 cases. CNPAS has been reported to have an association with a single maxillary central incisor in up to 60% of cases. Ann Otol Rhinol Laryngol 110:70–75CrossRef
14.
Mercier S, Dubourg C, Garcelon N et al (2011) New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet 48:752–760PubMedCentralPubMedCrossRef
15.
Harris J, Robert E, Källén B (1997) Epidemiology of choanal atresia with special reference to the CHARGE association. Pediatrics 99:363–367PubMedCrossRef
16.
17.
Morimoto AK, Wiggins RH 3rd, Hudgins PA et al (2006) Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am J Neuroradiol 27:1663–1671PubMed
18.
Blustajn J, Kirsch CF, Panigrahy A et al (2008) Olfactory anomalies in CHARGE syndrome: imaging findings of a potential major diagnostic criterion. AJNR Am J Neuroradiol 29:1266–1269PubMedCrossRef
19.
Keller JL, Kacker A (2000) Choanal atresia, CHARGE association, and congenital nasal stenosis. Otolaryngol Clin N Am 33:1343–51CrossRef
20.
Lowe LH, Booth TN, Joglar JM et al (2000) Midface anomalies in children. Radiographics 20:907–922, quiz 1106-1107, 1112PubMedCrossRef
21.
Teissier N, Kaguelidou F, Couloigner V et al (2008) Predictive factors for success after transnasal endoscopic treatment of choanal atresia. Arch Otolaryngol Head Neck Surg 134:57–61PubMedCrossRef
22.
Black CM, Dungan D, Fram E et al (1998) Potential pitfalls in the work-up and diagnosis of choanal atresia. AJNR Am J Neuroradiol 19:326–329PubMed
23.
Graham JM Jr, Lee J (2006) Bosma arhinia microphthalmia syndrome. Am J Med Genet A 140:189–193PubMedCrossRef
24.
Bosma JF, Henkin RI, Christiansen RL et al (1981) Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males. J Craniofac Genet Dev Biol 1:153–184PubMed
25.
Meyer R (1997) Total external and internal construction in arhinia. Plast Reconstr Surg 99:534–542PubMedCrossRef
26.
Brusati R, Donati V, Marelli S et al (2009) Management of a case of arhinia. J Plast Reconstr Aesthet Surg 62:e206–210PubMedCrossRef
27.
Krings T, Geibprasert S, Luo CB et al (2007) Segmental neurovascular syndromes in children. Neuroimaging Clin N Am 17:245–258PubMedCrossRef
28.
29.
Rudnick EF, Chen EY, Manning SC et al (2009) PHACES syndrome: otolaryngic considerations in recognition and management. Int J Pediatr Otorhinolaryngol 73:281–288PubMedCrossRef
30.
Haggstrom AN, Garzon MC, Baselga E et al (2010) Risk for PHACE syndrome in infants with large facial hemangiomas. Pediatrics 126:e418–e426PubMedCrossRef
31.
Judd CD, Chapman PR, Koch B et al (2007) Intracranial infantile hemangiomas associated with PHACE syndrome. AJNR Am J Neuroradiol 28:25–29PubMed
32.
Oza VS, Wang E, Berenstein A et al (2008) PHACES association: a neuroradiologic review of 17 patients. AJNR Am J Neuroradiol 29:807–813PubMedCrossRef
33.
Bhattacharya JJ, Luo CB, Suh DC et al (2001) Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS). A new concept and a new classification. Interv Neuroradiol 7:5–17PubMedCentralPubMed
34.
Guion-Almeida ML, Richieri-Costa A, Jehee FS et al (2004) Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. Proc Natl Acad Sci U S A 101:8652–8657CrossRef
35.
Núñez-Villaveirán T, Frohner BB, Urcelay PR et al (2013) Bifid nose - a mild degree of frontonasal dysplasia. A case report. Int J Pediatr Otorhinolaryngol 77:1374–1377PubMedCrossRef
36.
Sharma S, Sharma V, Bothra M (2013) Frontonasal dysplasia (Median cleft face syndrome). J Neurosci Rural Pract 3:65–67CrossRef
37.
Abele TA, Salzman KL, Harnsberger HR et al (2014) Craniopharyngeal canal and its spectrum of pathology. AJNR Am J Neuroradiol 35:772–777PubMedCrossRef
38.
Twigg SR, Kan R, Babbs C et al (2004) Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A 101:8652–8657PubMedCentralPubMedCrossRef
39.
Miller PJ, Grinberg D, Wang TD (1999) Midline cleft. Treatment of the bifid nose. Arch Facial Plast Surg 1:200–203PubMedCrossRef
40.
Veenstra-Knol HE, Kleibeuker A, Timmer A et al (2003) Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome. Am J Med Genet A 123A:243–248PubMedCrossRef
41.
Gripp KW, Ennis S, Napoli J (2013) Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. Am J Med Genet A 161A:1058–1063PubMedCrossRef
42.
Mitchell K, O’Sullivan J, Missero C et al (2012) Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. Am J Hum Genet 90:69–75PubMedCentralPubMedCrossRef
43.
Manjila S, Miller EA, Vadera S et al (2012) Duplication of the pituitary gland associated with multiple blastogenesis defects: duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature. Surg Neurol Int 3:23PubMedCentralPubMedCrossRef
44.
Chariker M, Ford R, Morrison C et al (2011) Pituitary duplication with nasopharyngeal teratoma and cleft palate. J Craniofac Surg 22:755–758PubMedCrossRef
45.
Huisman TA, Fischer U, Boltshauser E et al (2005) Pituitary duplication and nasopharyngeal teratoma in a newborn: CT, MRI, US and correlative histopathological findings. Neuroradiology 47:558–561PubMedCrossRef
46.
Ginat DT, Holbrook EH, Faquin W et al (2013) Nasal hamartoma associated with duplicated pituitary. J Comput Assist Tomogr 37:369–370PubMedCrossRef
47.
Uchino A, Sawada A, Takase Y et al (2002) Extreme fenestration of the basilar artery associated with cleft palate, nasopharyngeal mature teratoma, and hypophyseal duplication. Eur Radiol 12:2087–2090PubMedCrossRef
48.
Mutlu H, Paker B, Gunes N et al (2004) Pituitary duplication associated with oral dermoid and corpus callosum hypogenesis. Neuroradiology 46:1036–1038PubMedCrossRef
49.
Lowe LH, Booth TN, Joglar JM et al (2000) Midface anomalies in children. Radiographics 20:907–922, quiz 1106-1107, 1112PubMedCrossRef
50.
McGlaughlin KL, Witherow H, Dunaway DJ et al (2010) Spectrum of Antley-Bixler syndrome. J Craniofac Surg 21:1560–1564PubMedCrossRef
51.
Tokumaru AM, Barkovich AJ, Ciricillo SF et al (1996) Skull base and calvaria deformities: association with intracranial changes in craniofacial syndromes. AJNR Am J Neuroradiol 17:619–630PubMed
52.
Robson CD, Mulliken JB, Robertson RL et al (2000) Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses. AJNR Am J Neuroradiol 21:1707–1717PubMed
53.
Sannomiya EK, Reis SA, Asaumi J et al (2006) Clinical and radiographic presentation and preparation of the prototyping model for pre-surgical planning in Apert’s syndrome. Dento Maxillofac Radiol 35:119–124CrossRef
54.
Marchac D, Renier D, Broumand S (1994) Timing of treatment for craniosynostosis and faciocraniosynostosis: a 20-year experience. Br J Plast Surg 47:211–222PubMedCrossRef
55.
Schatz CJ, Ginat DT (2013) Imaging features of rhinoplasty. AJNR Am J Neuroradiol 35:216–222PubMedCrossRef
Metadaten
Titel
CT and MRI of congenital nasal lesions in syndromic conditions
verfasst von
Daniel T. Ginat
Caroline D. Robson
Publikationsdatum
01.07.2015
Verlag
Springer Berlin Heidelberg
Erschienen in
Pediatric Radiology / Ausgabe 7/2015
Print ISSN: 0301-0449
Elektronische ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-014-3239-y

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