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65 Possible Causes for Audiometry Abnormal, Mental Retardation, Round Face

  • Mucopolysaccharidosis

    The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov] Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies A syndrome[icd9data.com] retardation.[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[icd9data.com] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[fpnotebook.com] Retardation, Vienna.[whonamedit.com]

  • Mucopolysaccharidosis 1

    Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] […] gargoylism) the most severe of the three types with coarse (gargyloid) facies, accelerated growth from infancy followed by progressive decline in the rate of development, mental[icd10data.com] retardation MPS I-H/S - Milder features; normal intelligence and micrognathia; corneal clouding, joint stiffness, and heart disease MPS IS - Aortic valve disease, corneal[emedicine.medscape.com]

  • Mandibulofacial Dysostosis

    Audiometry and CT scanning are imperative. Look for possible cerebral anomalies. Cranial nerves Abnormalities are common in patients with craniofacial microsomia.[emedicine.com] The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[ncbi.nlm.nih.gov] Follow-up of these patients revealed growth and mental retardation, and severe language and speech delay.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] Audiometry. Brain CT/MRI - characteristic cerebral changes. Spirometry to look for airflow obstruction. Echocardiography - to reveal cardiac abnormalities.[patient.info] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov]

  • Oculomotor Apraxia

    Adverse effects of glucocorticoids are well known and include glucose intolerance, diabetes, easy bruising, increased infections, rounded faces, loss of calcium from bones[vasculitisfoundation.org] retardation, and, occasionally, oculomotor apraxia.[ncbi.nlm.nih.gov] Neuropsychological test results Mental retardation (MR) was evident in three patients (IQ value: 63–73).[academic.oup.com]

  • Meniere's Disease

    American Journal of Mental Retardation, 102, 45–53. Google Scholar Elsabbagh, M., Cohen, H., Cohen, M., Rosen, S., & Karmiloff-Smith, A. ( 2011 ).[doi.org] Within 2weeks of diagnosis, all subjects underwent pure tone audiometry, cervical and ocular VEMP, and caloric test.[ncbi.nlm.nih.gov] Patients self-administer medication into the ear three times daily, while lying with the treated ear facing upward for fifteen minutes each time.[audiologyonline.com]

  • Hypertelorism

    Audiometry and CT scanning are imperative. Look for possible cerebral anomalies. Cranial nerves Abnormalities are common in patients with craniofacial microsomia.[emedicine.medscape.com] Cri du chat5p deletionSmall head and jaw; wide eyes; skin tags in front of eyes; round face with full cheeks; hypertelorism; epicanthal folds; down-slanting palpebral fissues[dontforgetthebubbles.com] The phenotype of the patients is different from that of all other previously described types of X-linked mental retardation (XLMR).[ncbi.nlm.nih.gov]

  • Saethre-Chotzen Syndrome

    Strikingly, all these patients were severely mentally retarded, which is otherwise a rare finding in Saethre-Chotzen syndrome.[ncbi.nlm.nih.gov] Audiometry and CT scanning are imperative. Look for possible cerebral anomalies. Cranial nerves Abnormalities are common in patients with craniofacial microsomia.[emedicine.medscape.com] Chromosome 18p deletion Syndrome The main clinical features of deletion are mental disabilities, growth disturbances, head and face anomalies (round face, enlarged oral cavity[nipt.ng]

  • Cockayne Syndrome

    […] see if there are abnormalities in the electric potential of the retina.[symptoma.com] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] Cockayne syndrome is a rare autosomal recessive condition producing a dwarfed, mentally retarded infant or child.[ncbi.nlm.nih.gov]

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