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970 Possible Causes for Congenital Heart Disease, Low Set Ears

  • Trisomy 18

    heart disease was made in a fetus with trisomy 18.[] During ultrasonographic examination, we discovered that her fetus had several important abnormalities, including a cystic hygroma, craniofacial defects (low-set ears, broad[] Symptoms Clenched hands Crossed legs (preferred position) Feet with a rounded bottom (rocker-bottom feet) Low birth weight Low-set ears Mental deficiency Small head ( microcephaly[]

  • Turner Syndrome

    KEYWORDS: Turner syndrome; congenital heart disease; outcomes; trisomy 21[] Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[] […] posterior hairline Low hairline at back of neck 0002162 Low-set ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower jaw [ more[]

  • Rubinstein-Taybi Syndrome

    heart disease.[] […] 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[] […] may include: Absent or extra kidney, and other problems with kidney or bladder An underdeveloped bone in the midface Unsteady or stiff walking gait Downward-slanted eyes Low-set[]

  • Velocardiofacial Syndrome

    Abstract We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech[] […] eyes, hypertelorism or low-set ears.[] BACKGROUND: Velocardiofacial syndrome (VCFS) is a disorder commonly associated with a characteristic facial appearance, congenital heart disease, and velopharyngeal insufficiency[]

  • Down Syndrome

    heart disease and Down syndrome.[] […] variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set[] […] 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[]

  • Mandibulofacial Dysostosis

    Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities.[] An exam of the infant may reveal a variety of problems, including: Abnormal eye shape Flat cheekbones Cleft palate or lip Small jaw Low-set ears Abnormally formed ears Abnormal[] Some association with congenital heart disease, TEF, and anal atresia. Radiologic manifestations Hypoplasia of the malar bones.[]

  • CHARGE Syndrome

    heart disease ) A : atresia (choanal) R : retardation (mental) G : genital hypoplasia E : ear abnormalities /deafness CHARGE syndrome is usually suspected at birth once multiple[] Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set[] These may include: a square-shaped face facial asymmetry, a difference in the appearance between the right and left sides of the face low-set and abnormal appearing ears antimongoloid[]

  • Noonan Syndrome

    Individuals with Noonan syndrome have abnormal facial features, congenital heart disease, short stature, and chest deformity.[] . - 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[] […] in children with congenital heart disease". [24] This described 9 children who in addition to congenital heart disease had characteristic facial features, chest deformities[]

  • Patau Syndrome

    Most infants with trisomy 13 have congenital heart disease.[] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[] Other birth defects of trisomy 13 include: Clenched hands Cleft lip or palate Extra fingers or toes (polydactyly) Hernias Kidney, wrist, or scalp problems Low-set ears Small[]

  • Terminal 4q Deletion Syndrome

    In some individuals with Monosomy Distal 4q, congenital heart disease and/or respiratory difficulties associated with certain craniofacial malformations (e.g., Pierre-Robin[] ears.[] GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet 1999;83:201–206. 38.[]

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