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735 Possible Causes for Dysmorphic Face, Low Set Ears

  • Smith-Magenis Syndrome

    ears, and brachydactyly.[link.springer.com] First report in a male newborn patient Articolo su rivista Vai 2005 Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor[unipa.it] Facial dysmorphisms include broad and square-shaped face, mild face hypoplasia, brachicephaly, short nasal philtrum, a tendency toward an everted upper lip, and relative prognathism[intechopen.com]

  • Trisomy 18

    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] Other distinguishable features include a small head and jaw, low-set ears and clenched hands.[raisingchildren.net.au]

  • Turner Syndrome

    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] These include short stature, swelling, a broad chest, a low hairline, low set ears and a webbed neck.[house.wikia.com] […] hairline, low-set ears, and infertility.[isna.org]

  • Smith Lemli Opitz Syndrome

    set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia.[ncbi.nlm.nih.gov] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org] There are many which include: CNS mental retardation hyperexcitability microcephaly hypotonia craniofacial blepharophimosis epicanthus micrognathia low set ears limb postaxial[radiopaedia.org]

  • Congenital Hypothyroidism

    ears.[ncbi.nlm.nih.gov] Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects[ncbi.nlm.nih.gov] Phenotypic features include, low set ears, extensive cleft palate, hypertelorism, spiky hair and low posterior hairline.[ojrd.biomedcentral.com]

  • Down Syndrome

    […] 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] Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips , and sloping underchin[britannica.com] […] appearance Small brachycephalic head Epicanthal folds Flat nasal bridge Upward-slanting palpebral fissures Brushfield spots Small nose and small mouth Protruding tongue Low-set[emedicine.medscape.com]

  • Trisomy 9

    A patient with partial trisomy 9 (47,XX, 9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable[ncbi.nlm.nih.gov] A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect.[ncbi.nlm.nih.gov] Results indicated the presence of low set ears and microcephaly for some children in the sample.[ncbi.nlm.nih.gov]

  • Rubinstein-Taybi Syndrome

    […] 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] Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects[ncbi.nlm.nih.gov] Prominent and beaked nose, hypoplasia of the maxilla, low-set ears, micrognathia, enamel hypoplasia, talon cusps, highly arched eyebrows and long eyelashes are the most common[symptoma.com]

  • Seckel Syndrome

    […] the deletion present in the propositus, are reviewed and include pre- and postnatal growth retardation, psychomotor retardation, microcephaly, micrognathia, and abnormal/low-set[ncbi.nlm.nih.gov] A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult. [11] Dental malocclusion, receding chin, high palatal arch could[joacp.org] A 1-day-old female newborn was admitted with dysmorphic features and feeding difficulties. The parents were consanguineous.[pediatricneurologybriefs.com]

  • Skeletal Dysplasia

    The phenotype is characterized by brachycephaly, flat face, hypertelorism, low-set ears, hypertrichosis, hypoplastic thorax, as well as short extremities with brachydactyly[ncbi.nlm.nih.gov] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”? .[nature.com] A flat face with a depressed nasal bridge, low set ears, thoracic hypoplasia, and a protuberant abdomen were noted.[jmg.bmj.com]

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