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16 Possible Causes for Overfolded Superior Helix, Seizure, Short Stature

  • Propionic Acidemia

    stature Rigid muscle tone (spasticity) Abnormal involuntary movements (dystonia) Loss of vision Death associated with propionic acidemia is mainly due to brain damage.[healthhype.com] There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[jamanetwork.com] All nine patients with pathological EEG discharges developed seizures compatible with the definition of symptomatic epilepsy.[ncbi.nlm.nih.gov]

  • Pallister W Syndrome

    Case presentation The proband is a 14 month-old girl with short stature and mental retardation. This was the first child from healthy unrelated parents.[molecularcytogenetics.biomedcentral.com] superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] My nephew still has giggle fits that are actually seizures.[wintermutedsun.wordpress.com]

  • Coffin-Lowry Syndrome

    Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism[ncbi.nlm.nih.gov] superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] […] sound-startle, a predominantly hypertonic reaction varying from hyperekplexia to a more prolonged tonic reaction resembling startle epilepsy, and true unprovoked epileptic seizures[ncbi.nlm.nih.gov]

  • Camptodactyly Syndrome Guadalajara Type 1

    Short stature and microcephaly, known to be common to both the variants, were also noted.[ped-rheum.biomedcentral.com] […] can lead to fall injuries affecting the head, or cause bone fractures Status Epilepticus is a seizure that lasts longer than normal.[dovemed.com] dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility[mendelian.co]

  • Baller-Gerold Syndrome

    In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A C).[ncbi.nlm.nih.gov] superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] She was started on carbamazepine once again and was seizure-free since then.[annalsofian.org]

  • FGFR2-Related Bent Bone Dysplasia

    II; hypochondrogenesis; Czech dysplasia; Kniest dysplasia; Stickler syndrome; otospondylomegaepiphyseal dysplasia; platyspondylic skeletal dysplasia; spondyloepiphyseal dysplasia[arupconsult.com] Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Aldosterone-producing adenoma with seizures[csbg.cnb.csic.es] […] plus, type 5, susceptibility to Sequencing of all coding exons of the gene - - 1.4 GABRD Generalised Epilepsy with febrile seizures plus (GEFS ) Sequencing of all coding[cegat.de]

  • Kaufman Oculocerebrofacial Syndrome

    Sibylla Achermann, Remo Largo, Dieter Kotzot, Mariluce Riegel and Albert Schinzel, Short stature, myopia, severe developmental delay, and peculiar facial appearance in two[doi.org] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal lobe LGI1 Epilepsy[genda.com.ar]

  • Kleiner Holmes Syndrome

    […] and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation[rgd.mcw.edu] superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] The most common seizure type seen in LKS is focal motor seizure. Focal seizures can become tonic-clonic seizures, also called bilateral convulsion.[epilepsy.com]

  • Chudley-McCullough Syndrome

    Other features may include short stature or mild seizures.[mendelian.co] It is important to diagnose CMS, since typically, patients with these types of brain malformations have very substantial developmental problems and seizures; therefore it[depts.washington.edu] Seizure 0001250 Percent of people who have these symptoms is not available through HPO Arachnoid cyst Fluid-filled sac located in membrane surrounding brain or spinal cord[rarediseases.info.nih.gov]

  • Branchio-Oculo-Facial Syndrome

    […] columella / depressed nasal tip - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Upslanted palpebral[csbg.cnb.csic.es] […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[accessanesthesiology.mhmedical.com] Most common symptoms of BRANCHIOOCULOFACIAL SYNDROME; BOFS Autosomal dominant inheritance Seizures Short stature Pica Hearing impairment More info about BRANCHIOOCULOFACIAL[mendelian.co]

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