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Syndromes of the First and Second Branchial Arches, Part 1: Embryology and Characteristic Defects

J.M. Johnson, G. Moonis, G.E. Green, R. Carmody and H.N. Burbank
American Journal of Neuroradiology January 2011, 32 (1) 14-19; DOI: https://doi.org/10.3174/ajnr.A2072
J.M. Johnson
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G. Moonis
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G.E. Green
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R. Carmody
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H.N. Burbank
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Article Figures & Data

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    Fig 1.

    Dorsal aspect of the germ disk from an approximately 15-day embryo.

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    Fig 2.

    Frontal view of an approximately 30-day embryo showing the positions of the stomodeum relative to the medial and lateral nasal prominence and the maxillary and mandibular prominences.

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    Fig 3.

    Ventral illustration of the palate, incisive foramen, gum, lip, and nose.

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    Fig 4.

    A, A 44-year-old woman with CP. 3D bony reconstruction shows a bony cleft (arrow) extending from the left aspect of an asymmetrically enlarged pyriform aperture to the alveolar surface. B, Axial CT image shows a bony cleft (arrow) between the left central and lateral maxillary incisors. C, Coronal CT image shows the extension of the bony clefting (arrow) to involve the primary palate.

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    Fig 5.

    Auricular atresia in various degrees of severity. A, Axial CT image in a 64-year-old woman with nonsyndromic EAC atresia shows marked narrowing of the bony EAC (arrow). B, Axial CT image in a 9-year-old girl shows severe atresia with a lateral bony plate (arrow). The middle ear cavity is small and dysplastic (arrowhead). There is also ipsilateral microtia. C, Axial CT image in a 3-year-old boy with Goldenhar syndrome shows complete bony atresia of the right EAC. D, Axial CT image in a 6-year-old boy with unilateral auricular atresia with associated ossicular chain fusion (arrow) and microtia (not shown).

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    Fig 6.

    A 6-year-old boy with syndromic micrognathia. A−C, 3D bony reconstructions show mandibular hypoplasia and abnormal temporomandibular joints, condyles, and coronoid processes. D, Axial CT image shows severe micrognathia and malocclusion.

Tables

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    Table 1:

    Derivatives of the BAs

    LocationCleftArchNervePouch
    FirstExternal ear canalMandible, muscles of mastication, 5th cranial nerve, malleus, and incusTrigeminal nerve (V2 and V3)Eustachian tube, tympanic cavity, mastoid air cells
    SecondCervical sinus of HisMuscles of facial expression, body and lesser horns of hyoid, 7th and 8th cranial nerves, stapesFacial nerve (VII)Palatine tonsil
    ThirdCervical sinus of HisSuperior constrictor muscles, internal carotid artery, 9th cranial nerve, greater horn, and body of hyoidGlossopharyngeal nerve (IX)Inferior parathyroid, thymus, pyriform fossa
    FourthCervical sinus of HisThyroid and cuneiform cartilages, 10th cranial nerve, aortic arch and right subclavian artery, part of laryngeal musclesVagus nerve (X), superior laryngeal nerveSuperior parathyroid, apex of pyriform sinus
    Fifth and sixthNonePortions of the laryngeal muscles and skeleton, inferior pharyngeal constrictor muscles, 11th cranial nerveVagus nerve (X), recurrent laryngeal nerveParafollicular ″C″ cells of thyroid gland
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    Table 2:

    System of Jahrsdoerfer et al for preoperative evaluation of aural atresia and stenosis as assessed using high-resolution CT of the temporal bonea

    ParameterPointsScoreCandidate
    Stapes present210Excellent
    Oval window19Very good
    Round window18Good
    Middle ear space17Regular
    Mastoid pneumatization16Borderline
    Facial nerve course1≤5Poor
    Malleus-incus complex1
    Incus-stapes articulation1
    Auricle appearance1
    • a The percentage of successful surgeries corresponds roughly with the rating scale (ie, score of 8 equals approximately 80% chance of postoperative hearing at normal or near-normal levels). Adapted from Jahrsdoerfer et al, 1992.34

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American Journal of Neuroradiology: 32 (1)
American Journal of Neuroradiology
Vol. 32, Issue 1
1 Jan 2011
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Syndromes of the First and Second Branchial Arches, Part 1: Embryology and Characteristic Defects
J.M. Johnson, G. Moonis, G.E. Green, R. Carmody, H.N. Burbank
American Journal of Neuroradiology Jan 2011, 32 (1) 14-19; DOI: 10.3174/ajnr.A2072
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Cite this article
J.M. Johnson, G. Moonis, G.E. Green, R. Carmody, H.N. Burbank
Syndromes of the First and Second Branchial Arches, Part 1: Embryology and Characteristic Defects
American Journal of Neuroradiology Jan 2011, 32 (1) 14-19; DOI: 10.3174/ajnr.A2072

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