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512 Possible Causes for Cardiomyopathy, Low Hairline, Low Set Ears

  • Noonan Syndrome

    Here we report on a case of an infant with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy with lethal outcome, in whom we identified a novel mutation[] […] posterior hairline Low hairline at back of neck 0002162 Muscular hypotonia Low or weak muscle tone 0001252 Scoliosis Abnormal curving of the spine 0002650 Strabismus Cross-eyed[] . - It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels[]

  • Turner Syndrome

    […] patients, including five fatal aortic dissections/ruptures ( Table 1 ), five nonfatal coarctations, three pericardial effusions, one congestive heart failure (history of cardiomyopathy[] These include short stature, swelling, a broad chest, a low hairline, low set ears and a webbed neck.[] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[]

  • Noonan Syndrome 3

    In some people, hypertrophic cardiomyopathy and pulmonary stenosis may be associated.[] Many children with Noonan syndrome have a short neck, and both children and adults may have excess neck skin (also called webbing) and a low hairline at the back of the neck[] It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.[]

  • Pelviscapular Dysplasia

    - hypotonia - lactic acidosis Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency Cardiomyopathy with myopathy due to COX deficiency Cardioskeletal myopathy[] […] posteriorly rotated and malformed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, low hairline, and mild psychomotor retardation.[] ears Abnormality of the pinna Stenosis of the external auditory canal Short neck Strabismus Deeply set eye Blepharophimosis Hypoplastic scapulae Hypoplastic ilia Brachydactyly[]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    Hypertrophic cardiomyopathy. RAS-MAPK genes.[] […] nuchal hairlineLow set ears • Cubitus valgus • Hypertrophic cardiomyopathy Turner’s syndrome • Short stature • Webbed neck • Low nuchal hairlineLow set ears • Cubitus[] He had dysmorphic triangular facies, hypertelorism, deep set eyes, down slanting palpebral fissures, low set ears, mild prognathia, and deep philtrum, prominent lower lip[]

  • Costello Syndrome

    Costello syndrome can complicate fatal hypertrophic obstructive cardiomyopathy.[] His face had coarse features with low-set ears, mild ptosis and a minimally depressed nasal bridge with wide nostrils, thick lips and low frontal hairline [Figure - 2] .[] His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with[]

  • Donohue Syndrome

    Therefore, every patient with Donohue syndrome should be screened for hypertrophic cardiomyopathy.[] Hirsutism manifests with low frontal and posterior hairline; hypertrichosis is apparently independent of hormonal stimulation. Precocious puberty in females.[] The patient showed typical "elfin-like" face with wide nostrils and thick lips, large and low-set ears, and dysplastic nails.[]

  • Saethre-Chotzen Syndrome

    頭蓋顔面骨形成不全症 Hereditary paraganglioma-pheochromocytoma syndrome :遺伝性褐色細胞腫・パラガングリオ-マ症候群 Blau syndrome:ブラウ症候群 Best vitelliform macular dystrophy:黄斑ジストロフィー Familial hypertrophic cardiomyopathy[] The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral[] Clinical features of this syndrome include unilateral or bilateral coronal synostosis, ptosis, low-set ears, hearing loss, hypertelorism, maxillary hypoplasia, deviated nasal[]

  • Cerebro-Facio-Thoracic Dysplasia

    1A 6 Dilated Cardiomyopathy 1Aa 6 Dilated Cardiomyopathy 1BB 1 Dilated Cardiomyopathy 1C 6 Dilated Cardiomyopathy 1CC 6 Dilated Cardiomyopathy 1D 4 Dilated Cardiomyopathy[] hairline (especially posteriorly in the midline on the neck), brachycephaly, calcified clinoid ligements, and multiple bony abnormalities in the upper thoracic vertebrae[] […] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low posterior hairline Low hairline at back of neck 0002162 Low-set ears Low set ears Lowset[]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    […] stand still Autosomal dominant hypohidrotic ectodermal dysplasia Brugada syndrome Common variable immunodeficiency Familial atrial fibrillation Familial isolated dilated cardiomyopathy[] hairline at the nape of the neck High hairline at the front of the head Large head Triangular face shape Broad forehead Short neck, webbed neck Eyes [ edit ] Hypertelorism[] The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects.[]

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