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181 Possible Causes for End-Plate Irregularities, Excessive Trabeculation in Right Ventricle, Hypoplastic Middle and Distal Phalanges

  • 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
  • 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: Hypoplastic Middle and Distal Phalanges
  • 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 Hypoplastic Middle and Distal Phalanges
  • 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 Hypoplastic Middle and Distal Phalanges
  • Rhizomelic Chondrodysplasia Punctata Type 2

    The case of a Yemeni girl with isolated peroxisomal acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT) deficiency is reported. She had rhizomelic chondrodysplasia punctata, microcephaly, failure to thrive, delayed motor and mental development, and spastic quadriplegia. Deficient de novo plasmalogen synthesis[…][ncbi.nlm.nih.gov]

    Missing: Excessive Trabeculation in Right Ventricle Hypoplastic Middle and Distal Phalanges
  • Spondyloenchondrodysplasia

    Peripheral sclerotic borders associated with anterior end plate irregularities have outlined the overall vertebral bodies. 通讯作者 Ali Al Kaissi.[gooa.las.ac.cn] Observe that the distal phalanges are hypoplastic and tapered. 1) Pubic Symphysis. Note the midline diastasis of the pubic symphysis. 2) CLAVICULAR INVOLVEMENT. A.[de.slideshare.net] Peripheral sclerotic borders associated with anterior end plate irregularities have outlined the overall vertebral bodies.[jmedicalcasereports.biomedcentral.com]

    Missing: Excessive Trabeculation in Right Ventricle
  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    […] recesses within the ventricular wall, usually involving the left ventricle, although the right ventricle and interventricular septum can also be affected.[biomedsearch.com] A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis[ihop-net.org] Mandel K - - 2001 Noncompaction of the ventricular myocardium, sometimes referred to as "spongy myocardium", appears as excessive and prominent trabeculations and deep intratrabecular[biomedsearch.com]

    Missing: End-Plate Irregularities
  • Ulna Metaphyseal Dysplasia Syndrome

    platesIrregular metaphyses 26.[slideshare.net] Hypoplastic/dysplastic middle and distal phalanges and 1 st metacarpal. Distal shortening of the ulna. B. Lower extremities. Delayed bone age – "empty” knees.[czytelniamedyczna.pl] 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]

    Missing: Excessive Trabeculation in Right Ventricle
  • Scheuermann's Disease

    plate irregularity and disc space narrowing.[neuroradiologycases.com] Vertebral end-plate flattening and irregularity is seen without vertebral fracture or scoliosis.[healio.com] plate irregularities. 20 - 45 o of kyphosis is normal in the 15 - 20 year old.[orthopaedicsone.com]

    Missing: Excessive Trabeculation in Right Ventricle Hypoplastic Middle and Distal Phalanges
  • Platyspondyly

    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] platesIrregular metaphyses 26.[slideshare.net]

    Missing: Excessive Trabeculation in Right Ventricle Hypoplastic Middle and Distal Phalanges