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64 Possible Causes for Ear Deformity, Folded Helix, Seizure

  • Down Syndrome

    She had focal seizures at five months of age, which were controlled with phenobarbital.[] The evaluation in the DS clinic focused on potential medical diagnoses including atlantoaxial joint instability, vitamin deficiency, obstructive sleep apnea (OSA), and seizures[] […] cataract, conductive hearing loss, heart defects (atrio-ventricular canal), digestive malformations (duodenal atresia), Hirschsprung disease, West syndrome (see these terms), seizures[]

  • Microtia

    […] or crus of the anthelix that extends from the superior portion of the anthelix to the upper posterior aspect of the corner of the helix.[] Microtia and Other Ear Deformities Congenital ear deformities occur in many different syndromes or alone.[] Abstract We report on a male infant who presented with neonatal clonic seizure and was found to have isolated left-sided microtia on clinical examination.[]

  • Mucopolysaccharidosis 2

    […] alpha helixes around them.[] […] infection, hearing difficulties Frequent upper respiratory infections Stunted growth Multiple skeletal deformities; degenerative joints causing joint stiffness Spinal cord[] In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures in one patient and ptosis in the other.[]

  • Congenital Contractural Arachnodactyly

    Most affected individuals have "crumpled" ears that present as a folded upper helix of the external ear and most have contractures of major joints (knees and ankles) at birth[] " deformity.[] This condition is characterized by seizures, hyperflexible joints, and cardiac findings, which include thoracic aortic aneurysm and dissection.[]

  • Wolf Hirschhorn Syndrome

    […] tightly folded around proteins called histones.[] […] features which include prominent glabella, hypertelorism, (‘Greek helmet appearance’) micrognathia, highly arched eyebrows, down-turned ‘carp’ mouth and simple, lobeless ears[] The mean age of the last seizure for those who were seizure free for 3 years was 11.3 years (range 2-28 years); in the majority of patients, seizures ceased within childhood[]

  • Anotia

    […] is the folded over outside edge of the ear Intertragal notch is the space between the tragus and antitragus Lobe (lobule) may be attached or free, based on genetics Scapha[] Rai , Rudra Gouda , Sudha Moka , Liz Elizabeth Dunbar Journal of child neurology 2015 We report on a male infant who presented with neonatal clonic seizure and was found to[] Lactic acidosis, encephalopathy, myopathy, seizure disorder, ophthalmoplegia, diabetes mellitus, cardiomyopathy/cardiac conduction defects, stroke like episodes, ataxia, and[]

  • Ondine Syndrome

    […] and antimongoloid slant of eyes, ears deformed with broad slightly irregular flattened helix and fixed lobes, prominent glabella, broad root of nose, asymmetry of shape of[] Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures[] Those with CCHS are also at risk for cardiac pauses, cancer, GI dysfunction, seizures, and learning and behavioral issues.[]

  • Aarskog Syndrome

    […] fissures, broad nasal bridge, short nose, anteverted nostrils, short philtrum, malformed ears with thickened helix, and a short neck (Fig. 2a ).[] The deformities affecting the ears might include, among the many other malformations, low-set ears and thickened “fleshy” earlobes, while those affecting the teeth might include[] He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[]

  • Cleft Palate

    Clinically observed mutations to the PHF8 gene cluster in exons encoding for the double stranded β-helix fold and will therefore disrupt catalytic activity.[] […] center provides comprehensive care for children and treats conditions such as: Cleft lip and palate Nasal speech caused by Velopharyngeal insufficiency Genetic syndromes Ear[] ;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures[]

  • External Auditory Canal Aplasia/Hypoplasia

    - 6.7.3 Over-folded ear helix, lop ear Xxx XXX This LDD category comprises two different entities.Lop ears (HP:0000394) and Overfolded helices (HP:0000396) 6.7.4 Pits of[] deformity), Ms Rebecca Stockwell from The University of Queensland for her research into the spread of airborne diseases in hospitals through coughing, Mr Eric Wu from The[] […] at 16m; Speaking at 24m; Delayed myelination at 15m; Metopic ridge; Congenital heart defect(ASD); Hypoplastic toenails and delayed bone age; Normal microarray fining - - seizures[]

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