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128 Possible Causes for Heart Murmur, Midline Defects, Skeletal Dysplasia

  • Congenital Heart Disease

    Node and midline defects are associated with left-right development in Delta1 mutant embryos. Development. 2003 ; 130 : 3–13.[doi.org] dysplasia syndrome Lowry-MacLean syndrome Matthew-Wood syndrome Muenke syndrome Myelomeningocele Neuroblastoma Normal pressure hydrocephalus Omphalocele Orofaciodigital syndrome[se-atlas.de] Your doctor can hear a heart murmur with a stethoscope. However, not all murmurs are signs of congenital heart defects. Many healthy children have heart murmurs.[web.archive.org]

  • Seckel Syndrome

    defects 園田 徹 217 117 Mulvihill-Smith syndrome 園田 徹 219 118 MURCS association 園田 徹 221 119 muscular atrophy, spinal and bulbar(SBMA), X-linked Kennedy type 斎藤加代子 223 120 muscular[nippon-rinsho.co.jp] Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II ([ncbi.nlm.nih.gov] murmur Heart murmurs 0030148 High palate Elevated palate Increased palatal height [ more ] 0000218 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hyperactivity[rarediseases.info.nih.gov]

  • Scoliosis

    Abstract Cantrell's pentalogy (CP) is a rare syndrome characterized by defects in the lower sternum with ectopia cordis, anterior diaphragm defects, midline supraumbilical[ncbi.nlm.nih.gov] Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing[ncbi.nlm.nih.gov] The location is defined by the vertebra that is most deviated and rotated from midline, called the apical vertebra.[symptoma.com]

  • Wolf Hirschhorn Syndrome

    Characteristics include marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, distinctive facies, and midline defects.[ncbi.nlm.nih.gov] There are some skeletal features like kyphosis, scoliosis, hemi vertebrae, dysplasia or displacement of the hip, abnormal implantations of hallux and thumb.[scielo.iec.gov.br] murmur secondary to congenital heart defect, most commonly atrial septal defects; pulmonary stenosis, ventricular septal defects, patent ductus arteriosus, aortic insufficiency[emedicine.medscape.com]

  • Atrial Septal Defect

    Surgical atrial septal defect treatment is performed by an open heart surgery, done using an up-and-down (vertical) incision in the midline of the chest.[childrens.memorialhermann.org] Ellis van Creveld syndrome is an autosomal recessive disorder associated with skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, dysplastic[emedicine.medscape.com] At the initial visit, he presented with recurrent lower respiratory infection, heart murmur, psychomotor retardation, inverted nipples, and cerebellar atrophy.[ncbi.nlm.nih.gov]

  • Trisomy 18

    Craniofacial malformations are common congenital defects caused by failed midline inductive signals.[ncbi.nlm.nih.gov] Twin 1 showed subcutaneous edema, pleural effusion, and mesomelic limb shortening, suggestive of lethal skeletal dysplasia (Roberts syndrome).[ncbi.nlm.nih.gov] A 3-day-old boy was referred to our clinic due to respiratory distress, elevated serum direct bilirubin levels, a systolic heart murmur, growth restriction and micrognathia[ncbi.nlm.nih.gov]

  • Crouzon Syndrome

    […] sections closer to the midline. ( C ) Higher magnification of the calvaria at Day 0 (d0) and Day 14 (d14) in Fgfr3 Y367C/ mice.[doi.org] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.com] We describe an infant with a clinical and genetic diagnosis of Crouzon syndrome who presented with respiratory distress and heart murmur in early neonatal life.[ncbi.nlm.nih.gov]

  • Funnel Chest

    We performed concomitant repair of pectus excavatum and an atrial septal defect through a short midline incision in an adult [5].[wikigenes.org] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.medscape.com] Other notable findings include a pot-belly posture, forward-drifted shoulders, a heart murmur on cardiac auscultation and arrhythmia in severe cases.[symptoma.com]

  • Mononen-Karnes-Senac Syndrome

    […] type Midline defects recessive type Midline developmental field defects Mievis Verellen Dumoulin syndrome Milner Khallouf Gibson syndrome Minkowski-Chauffard disease Minoxidil[mindmappedia.com] Homepage Rare diseases Search Search for a rare disease Mononen-Karnes-Senac syndrome Disease definition Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia[orpha.net] Heart valve replacement Hypertension Murmur Heart attack Palpitations Peripheral More information Hemorrhagic disease of the newborn Hemorrhagic disease of the newborn A[docplayer.net]

  • Frontometaphyseal Dysplasia

    We propose that this combination is not coincidental and discuss mechanisms that may result in the combination of OPD, omphalocele, and other midline defects.[opdsyndrome.org] Frontometaphyseal dysplasia (FMD) belongs to a group of overlapping skeletal dysplasias, the common molecular basis of which are mutations of FLNA, the gene encoding filamin[ncbi.nlm.nih.gov] Despite the presence of a heart murmur described in several patients, a specific cardiac lesion has not been diagnosed.[ncbi.nlm.nih.gov]

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