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481 Possible Causes for Coloboma, Ear Deformity

  • Mandibulofacial Dysostosis

    Paulo, Bauru, SP, Brazil. roselizc@centrinho.usp.br Abstract We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma[ncbi.nlm.nih.gov] These were correlated with induced ear deformities in an animal model that had features characteristic of human mandibulofacial dysostosis.[ncbi.nlm.nih.gov] The most important manifestations of this syndrome are hypoplastic or absent malar bone, centrofacial over-projection, eyelid coloboma, and micrognathia.[ncbi.nlm.nih.gov]

  • Microtia

    […] associated with Treacher-Collins syndrome, Nager syndrome, or Goldenhar syndrome (epibulbar dermoid cysts on the conjunctival surface of the lower lids, microphthalmia, or colobomas[journalofethics.ama-assn.org] Microtia and Other Ear Deformities Congenital ear deformities occur in many different syndromes or alone.[cranioutah.com] Treacher-Collins-1 syndrome (OMIM 154500) a is characterized by downward oblique palpebral fissures, coloboma of the eyelid, micrognathia, microtia, zygomatic hypoplasia and[elsevier.es]

  • Goldenhar Syndrome

    The black arrow indicates the site of right upper eyelid coloboma.[eyerounds.org] The ear deformities range from tags in front of the ear, to atresia (closure) of the external auditory canal, abnormalities in the size and shape of the ear, and even anotia[medicinenet.com] Ear Deformities Deformity of the ears is another sign of Goldenhar. The ears may appear smaller than normal (microtia), or in some cases they may be absent (anotia).[syndromespedia.com]

  • Fraser Syndrome

    […] beginning in the third week of life, by dissecting the eyelids from the cornea, reconstructing the conjunctival fornices with buccal mucosa, and repairing the upper lid coloboma[ncbi.nlm.nih.gov] Some of the most common ones are middle and outer ear deformities, partial fusion of the fingers and toes (syndactyly), complete fusion of the eyelids (cryptophthalmos) and[symptoma.com] Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[ncbi.nlm.nih.gov]

  • Patau Syndrome

    This includes scalp defects, coloboma, hypertelorism, cleft lip, cleft palate, deformed ears, congenital heart disease, microcephaly, sloping forehead, wide sagittal suture[whonamedit.com] Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[orpha.net] Heart defects Structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus[cytogenx.com]

  • Trisomy 18

    […] as low-set and malformed ears, cleft lip and palate, a receding chin, convex soles of the feet, a webbed neck, and fingers bent in a unique configuration.[britannica.com] Malformations are common with involvement of the eyes (microphthalmia, coloboma), heart (over 90% of cases) digestive tract (esophageal atresia, anorectal malformations),[web.archive.org] Other signs include: Hole, split, or cleft in the iris ( coloboma ) Separation between the left and right side of the rectus abdominis muscle ( diastasis recti ) Umbilical[web.archive.org]

  • CHARGE Syndrome

    Here we describe electrophysiology findings in a four-week-old infant born with bilateral coloboma, more extensive in the right eye, as part of CHARGE syndrome.[ncbi.nlm.nih.gov] Most patients have some deformities of the ear, such as asymmetric ears, small or absent earlobes, malformed middle ear bones, malformed cochleae, and small or absent semicircular[medschool.lsuhsc.edu] Abnormalities: Ear abnormalities affect 95 to 100 percent of individuals have deformities of the outer ear which can be visualized 60 to 90 percent of people also experience[verywell.com]

  • Ear Deformity

    Upper eyelid colobomas and ocular dermoids or lipdermoids are the primary ocular signs (lower lid colobomas are more common in Treacher Collins-Franceschetti syndrome [ 154500[disorders.eyes.arizona.edu] Abstract The common characteristics of the crumpled-ear deformity, the steps for surgical correction, and the authors' experience are described in this article.[ncbi.nlm.nih.gov] OBJECTIVE: The purpose of this paper is to study the causes of ear deformity and describe the advantages of the author's technique for the prevention of ear deformities in[ncbi.nlm.nih.gov]

  • Branchio-Oculo-Facial Syndrome

    RESULTS: An infant presenting with anophththalmia/coloboma and subtle craniofacial symptoms was found to have a family history of congenital cataracts and colobomas in her[ncbi.nlm.nih.gov] […] of both the external and middle ear structures.[ipfs.io] The disease occured in a male patient aged 20 years and presented with facial asymmetry, pre and postauricular pits, lip pits, microphthalmia, broad malformed nose, colobomas[ncbi.nlm.nih.gov]

  • Congenital Contractural Arachnodactyly

    […] aortic root dilatation may also be observed in some patients. 20% of patients with CCA present with ophthalmological problems, such as heterotopia, ectopia lentis, partial coloboma[symptoma.com] " deformity.[ncbi.nlm.nih.gov] In 2004, two cases, one with blue sclerae and glaucomatous optic disc cupping, and another with partial coloboma of the lens, mild cataract, abnormal cilliary body and glaucoma[doi.org]

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