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417 Possible Causes for End-Plate Irregularities, Excessive Trabeculation in Right Ventricle, Short Humerus

  • Rhizomelic Chondrodysplasia Punctata Type 2

    The baby had short humerus bones with stippled epiphyses, consistent with the disease.[file.scirp.org] humerus ; Stippled calcification proximal humeral epiphyses ; Wide nasal bridge Associated Genes GNPAT (Withdrawn symbols: DAP-AT, DAPAT, DHAPAT ) Mouse Orthologs Gnpat ([mousephenotype.org] The baby had short humerus bones with stippled epiphy-ses, consistent with the disease.[scirp.org]

    Missing: Excessive Trabeculation in Right Ventricle
  • Roifman Syndrome

    […] within the ventricular wall, usually involving the left ventricle, although the right ventricle and interventricular septum can also be affected.[ncbi.nlm.nih.gov] […] and prominent trabeculations and deep intratrabecular recesses within the ventricular wall, usually involving the left ventricle, although the right ventricle and interventricular[unboundmedicine.com] Noncompaction of the ventricular myocardium, sometimes referred to as "spongy myocardium", appears as excessive and prominent trabeculations and deep intratrabecular recesses[ncbi.nlm.nih.gov]

    Missing: Short Humerus
  • Wolcott-Rallison Syndrome

    Wolcott–Rallison syndrome, WRS, is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3 gene, which encodes[…][en.wikipedia.org]

    Missing: Excessive Trabeculation in Right Ventricle Short Humerus
  • Facioauriculoradial Dysplasia

    2nd metacarpal ; Short humerus ; Short stature ; Shoulder dislocation ; Split hand ; Stenosis of the external auditory canal ; Ulnar bowing Associated Genes - Mouse Orthologs[mousephenotype.org] humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792 19 upper limb phocomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009813 20 asymmetric radial dysplasia[malacards.org] […] tibia Radial bowing Short 4th metacarpal Abnormality of the humerus Abnormality of the carpal bones Abnormality of the skeletal system Multiple exostoses Mesomelic short[mendelian.co]

    Missing: End-Plate Irregularities Excessive Trabeculation in Right Ventricle
  • Platyspondyly

    […] tubular bones of the hand Anterior rib cupping Bowed humerus Irregular vertebral endplates Abnormality of fibula morphology Abnormality of the eye Generalized osteoporosis[mendelian.co] Parastremmatic dwarfism in a 9-year-old child. a Note flattening and marked end-plate irregularities of the vertebral bodies.[rrnursingschool.biz] plate irregularities and narrowed intervertebral disk spaces kyphoscoliosis excessive lumbar lordosis hips horizontal acetabular roofs and delayed ossification of the pubis[orthobullets.com]

    Missing: Excessive Trabeculation in Right Ventricle
  • Ulnar Mammary Syndrome

    […] scapula and clavicle Thorax Absent/short xiphisternum Subglottic stenosis[datagenno.com] Accessory nipples Hypopigmentation and hypoplasia of areola nipple and breast Normal to absent lactation Skeletal Carpal bone absence or fusion on ulnar side Hypoplastic humerus[datagenno.com]

    Missing: End-Plate Irregularities Excessive Trabeculation in Right Ventricle
  • Wiedemann-Rautenstrauch Syndrome

    […] femur Short thighbone 0003097 Short humerus Short long bone of upper arm Short upper arms [ more ] 0005792 Skeletal muscle hypertrophy Increased skeletal muscle cells 0003712[rarediseases.info.nih.gov] Prolactin excess 0000870 Recurrent otitis media Recurrent middle ear infection 0000403 Recurrent skin infections Skin infections Skin infections, recurrent [ more ] 0001581 Short[rarediseases.info.nih.gov]

    Missing: End-Plate Irregularities Excessive Trabeculation in Right Ventricle
  • Cerebro-Costo-Mandibular Syndrome

    Cerebro-costo-mandibular syndrome is a very rare genetic disorder in which mutations in the small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB) genes cause various skeletal anomalies of the thorax and spine. The diagnosis is made based on clinical criteria and the prognosis depends on the severity of[…][symptoma.com]

    Missing: End-Plate Irregularities Excessive Trabeculation in Right Ventricle
  • Primrose Syndrome

    Abstract Primrose syndrome is a unique condition of intellectual disability, dysmorphic facial features, and specific minor abnormalities including large calcified ear auricles. Only six patients have been previously reported. We describe a Brazilian boy with the striking similar facies and the main clinical findings that[…][doi.org]

    Missing: Excessive Trabeculation in Right Ventricle Short Humerus
  • Schmid Metaphyseal Chondrodysplasia

    It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity.[genecards.org] Short limbed rhizomelic dwarfism of late onset (2 - 4 yrs of age) Mild to moderate spinal deformity, normal craniofacial structure slight irregularities of vertebral end plates[orthopaedicsone.com] Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees.[genecards.org]

    Missing: Excessive Trabeculation in Right Ventricle Short Humerus

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