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1,559 Possible Causes for large, Low Set Ears

  • Meningomyelocele

    Here, we present a new surgical procedure for the closure of large meningomyelocele defects.[ncbi.nlm.nih.gov] She had a very short trunk with disproportionately long extremities, mild prognathism, low-set ears, thoracolumbar meningomyelocele, and imperforate anus.[ncbi.nlm.nih.gov] The aim of this study is to evaluate the reading man procedure for closure of large meningomyelocele defect.[ncbi.nlm.nih.gov]

  • Trisomy 18

    Chromosomal abnormalities of intravascular large B-cell lymphoma (IVLBCL), a rare form of extranodal diffuse large B-cell lymphoma, have been described in only a small number[ncbi.nlm.nih.gov] During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad[ncbi.nlm.nih.gov] Babies born with trisomy 18 can have heart and kidney problems, a small head with low-set ears, a chest with an unusual shape, and crossed legs.[myhealth.alberta.ca]

  • Multiple Congenital Anomalies

    This is the first report of a patient with a large interstitial deletion of 17p.[ncbi.nlm.nih.gov] […] anomalies consisting of major skeletal anomalies restricted to the left side, cleft palate, ventricular and atrial septal defect, retromicrognathia, short neck, dysplastic low-set[ncbi.nlm.nih.gov] In this case, a preliminary interphase FISH study had indicated monosomy 13 resulting from a large 13q deletion that included the Rb1 locus.[ncbi.nlm.nih.gov]

  • Rubinstein-Taybi Syndrome

    He was found to have a large (7.0-cm 4.7-cm), right-sided brain mass that was eventually diagnosed as a primary central nervous system lymphoma.[ncbi.nlm.nih.gov] […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[medical-dictionary.thefreedictionary.com] In addition, some patients with low intelligence quotients and autistic features bear large deletions.[ncbi.nlm.nih.gov]

  • Homocystinuria

    The patient shows some of the facial features that were already reported in the literature (high forehead, large floppy, low-set ears, flat philtrum and hypotonia of perioral[ncbi.nlm.nih.gov] To report the ocular complications of cobalamin-C type methylmalonic aciduria with homocystinuria (cblC) in a large consecutive series of patients.[ncbi.nlm.nih.gov] Although homocystinuria is observed in Arab and North African patients, their clinical presentations have not been described and molecular causes remained largely uninvestigated[ncbi.nlm.nih.gov]

  • Smith-Magenis Syndrome

    This is the second reported patient with a normal endogenous melatonin rhythm in SMS associated with an atypical large deletion.[ncbi.nlm.nih.gov] ears, and brachydactyly.[link.springer.com] Data support RAI1 as a transcriptional regulator, but the genes it might regulate are largely unknown.[ncbi.nlm.nih.gov]

  • Macrocephaly

    Consultation of a neurosurgeon Link to WHO Growth Charts Etiology of Large Heads Normal infant with familial large heads.[pedclerk.bsd.uchicago.edu] Facial features common to all patients include a high, broad forehead; a flat and broad nasal bridge; long, downslanted palpebral fissures and dysplastic, low-set ears.[ncbi.nlm.nih.gov] She also had macrocephaly, frontal bossing, hypertelorism, wide nasal bridge, small alae nares, short philtrum, prominent upper lip, and low-set, protruding ears.[ncbi.nlm.nih.gov]

  • CHARGE Syndrome

    Therefore, this large deletion may have been mediated by non-homologous end joining.[ncbi.nlm.nih.gov] Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set[gosh.nhs.uk] Large pale optic discs with a fibrous elevation and colobomata and arterio-venous anastomoses with enlarged veins in optic discs were detected.[ncbi.nlm.nih.gov]

  • Down Syndrome

    Large, population-based cross-sectional study. The geographical area of one Health Board, Scotland.[ncbi.nlm.nih.gov] […] syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set[symptoma.com] Replication analyses of DMPs and DMRs found by Bacalini et al. (2015) showed a large overlap.[ncbi.nlm.nih.gov]

  • Turner Syndrome

    Systemic lupus erythematosus (SLE) is a chronic disease caused by an aberrant autoimmune response, with a large spectrum of clinical manifestations.[ncbi.nlm.nih.gov] Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck Low hairline in the back Low-set ears[medlineplus.gov] A 55-year-old man with large B-cell lymphoma developed atraumatic left shoulder pain.[ncbi.nlm.nih.gov]

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