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167 Possible Causes for Congenital Ear Deformity, Ectopia Lentis, Pediatric Disorder

  • Congenital Contractural Arachnodactyly

    We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation.[ncbi.nlm.nih.gov] […] contractural deformities of the knees and elbows.[ncbi.nlm.nih.gov] […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.de]

  • CHARGE Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] She is a specialist in pediatric communication disorders and augmentative communication.[smartspeechtherapy.com] Developmental disorders with olfactory abnormalities, developmental lag, heart malformations, external genital malformations.[ncbi.nlm.nih.gov]

  • Smith-Magenis Syndrome

    Ocular findings in our patient include: myopia, iris nodules, loose zonules, and ectopia lentis.[ncbi.nlm.nih.gov] Abstract Smith-Magenis Syndrome (SMS) is a complex, pediatric, neurobehavioral, contiguous gene syndrome ascribed to interstitial microdeletion of chromosome 17, band 11.2[ncbi.nlm.nih.gov] J Dev Behav Pediatr. 2006 Jun;27(3):188-92. Neira-Fresneda J, Potocki L.[ghr.nlm.nih.gov]

  • Marchesani-Weill Syndrome

    Simple dominant ectopia lentis. Pathogenic variants in FBN1 have been identified in some families. Inheritance is autosomal dominant. Ectopia lentis and pupilae.[ncbi.nlm.nih.gov] […] and often a deformity of the auricles ("crumpled ears").[aerzteblatt.de] Mankin, MD is a pediatric orthopaedist in the Raleigh, NC area. He too was born in Pittsburgh and attended University of Pittsburgh Medical School.[books.google.com]

  • Lens Coloboma

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[ncbi.nlm.nih.gov] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q12- Congenital[icd10data.com] Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome Case Report Abstract A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan[egms.de]

  • Hydrophthalmos

    lentis, Aphakia) Aniridia - Buphthalmos - Hydrophthalmos - Keratoglobus - Coloboma Ears Microtia Other face and neck Otocephaly - Webbed neck - Microstomia - Macrocheilia[bionity.com] Q16.2 Absence of eustachian tube Q16.3 Congenital malformation of ear ossicles Q16.4 Other congenital malformations of middle ear Q16.5 Congenital malformation of inner ear[icd10data.com] "Anterior Segment Disorders". Ruldolph’s Pediatrics. McGraw Hill Medical. pp. 2308-2313. (Good review of pediatric glaucoma, written for the pediatrician.)[clinicaladvisor.com]

  • Congenital Optic Disc Coloboma

    It may be a variant of nontraumatic (congenital) ectopia lentis, in which the zonular deficiency is more generalized. Coloboma of the ...[biomedsearch.com] -Q18 Congenital malformations of eye, ear, face and neck (Q10-Q18) Q14 Congenital malformations of posterior segment of eye Results for Congenital optic disc coloboma and[averbis.com] Accompanying ocular disorders may include aniridia, albinism, coloboma, Duane retraction syndrome, high myopia, and numerous neurological and pediatric conditions.[mhmedical.com]

  • Congenital Cortical Hyperostoses

    Lentis Kozlowski Tsuruta Taki Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes Leri-Weill dyschondrosteosis Lethal Chondrodysplasia[rgd.mcw.edu] Hair and nails Circumcision Tattoos and scarification Purpose(s) Part Four: Congenital anomalies Congenital skeletal anomolies Skull malformations Craniosynostoses Complex[corp.credoreference.com] NEURODEVELOPMENTAL ABNORMALITIES Infantile Hypercalcemia Jequier Kozlowski Skeletal Dysplasia Kashin-Beck Disease Kniest dysplasia Kniest-Like Dysplasia with Pursed Lips and Ectopia[rgd.mcw.edu]

  • Congenital Cataract

    Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis, Familial Ectopia Lentis, Isolated Ectopia Lentis, Isolated, Autosomal Dominant ECTOL1 129600 Genetic Test Registry[ukgtn.nhs.uk] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q12- Congenital[icd10data.com] Evaluation of pediatric cataracts and systemic disorders. Curr Opin Ophthalmol. 2011; 22(5):365-79.[invitae.com]

  • Congenital Ptosis

    Dominantly inherited blepharoptosis, high myopia, and ectopia lentis. Arch Ophthalmol. 1982;100(2):282–4.[bmcophthalmol.biomedcentral.com] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q10- Congenital[icd10data.com] Children with ptosis, whether they have had surgery or not, should be examined annually by a pediatric ophthalmologist for amblyopia, refractive disorders, and associated[utsaveyeclinic.com]

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