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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.[] dysplasia syndrome Lowry-MacLean syndrome Matthew-Wood syndrome Muenke syndrome Myelomeningocele Neuroblastoma Normal pressure hydrocephalus Omphalocele Orofaciodigital syndrome[] 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.[]

  • 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[] Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II ([] murmur Heart murmurs 0030148 High palate Elevated palate Increased palatal height [ more ] 0000218 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hyperactivity[]

  • 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[] Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing[] The location is defined by the vertebra that is most deviated and rotated from midline, called the apical vertebra.[]

  • Wolf Hirschhorn Syndrome

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

  • 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.[] Ellis van Creveld syndrome is an autosomal recessive disorder associated with skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, dysplastic[] At the initial visit, he presented with recurrent lower respiratory infection, heart murmur, psychomotor retardation, inverted nipples, and cerebellar atrophy.[]

  • Trisomy 18

    Craniofacial malformations are common congenital defects caused by failed midline inductive signals.[] Twin 1 showed subcutaneous edema, pleural effusion, and mesomelic limb shortening, suggestive of lethal skeletal dysplasia (Roberts syndrome).[] 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[]

  • 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.[] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[] 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.[]

  • Funnel Chest

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

  • 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[] Homepage Rare diseases Search Search for a rare disease Mononen-Karnes-Senac syndrome Disease definition Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia[] Heart valve replacement Hypertension Murmur Heart attack Palpitations Peripheral More information Hemorrhagic disease of the newborn Hemorrhagic disease of the newborn A[]

  • 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.[] 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[] Despite the presence of a heart murmur described in several patients, a specific cardiac lesion has not been diagnosed.[]

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