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343 Possible Causes for All Reported Mutations Have Occurred De Novo, Short Humerus

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  • Cerebro-Costo-Mandibular Syndrome

    reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] Craniosynostosis MUSCLE, SOFT TISSUE: Hypotonia, neonatal NEUROLOGIC: [Central nervous system]; Delayed psychomotor development; Poor or absent speech; Seizures (rare) MISCELLANEOUS: All[findzebra.com]

  • 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: All Reported Mutations Have Occurred De Novo
  • 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: All Reported Mutations Have Occurred De Novo
  • 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humerus ; Stippled calcification proximal humeral epiphyses ; Wide nasal bridge Associated Genes GNPAT (Withdrawn symbols: DAP-AT, DAPAT, DHAPAT ) Mouse Orthologs Gnpat ([mousephenotype.org] The baby had short humerus bones with stippled epiphy-ses, consistent with the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: All Reported Mutations Have Occurred De Novo
  • 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: All Reported Mutations Have Occurred De Novo
  • Humerus Trochlea Aplasia

    Human phenotypes related to Trochlea of the Humerus, Aplasia of: 33 # Description HPO Frequency HPO Source Accession 1 cleft palate 33 HP:0000175 2 short humerus 33 HP:0005792[malacards.org] TROCHLEA OF THE HUMERUS, APLASIA OF Limbs - Aplasia of trochlea of humerus [SNOMEDCT: 732928005 ] [UMLS: C1860773 ] - Flexed elbows - Pronated forearms - Short humerus [UMLS[omim.org] Symptoms - Humerus trochlea aplasia of * Short upper arm bone * Webbed elbow * Limited elbow extension * Dislocated elbow * Wasted arm muscle Causes - Humerus trochlea aplasia[checkorphan.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Fracture

    […] period of immobilization is sufficient management for minimally displaced and/or impacted fractures of the proximal humerus.[emedicine.medscape.com] […] falls. 15 Physicians should also be aware of a particular mechanism reported to produce a noninflicted spiral-oblique fracture of the humerus in 1 case report. 51 When the[pediatrics.aappublications.org] American Society of Anesthesiologists (ASA) classification, AO classification, and initial fracture displacement. [12] The authors concluded that early physiotherapy with a short[emedicine.medscape.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Osteoarthritis

    Conclusion: Total shoulder arthroplasty using a short-stem humeral component resulted in good clinical outcomes with no evidence of loosening.[ncbi.nlm.nih.gov] However, approximately 40% of the shoulders developed substantial bone loss in the proximal humerus at between four and seven years of follow-up.[ncbi.nlm.nih.gov]

    Missing: All Reported Mutations Have Occurred De Novo
  • Entrapment Neuropathy

    STIR) signal). 1 , Ulnar nerve; 2 , medial epicondyle of humerus; 3 , triceps; 4 , brachial artery.[clinicalgate.com] FIGURE 33.3 A, Magnetic resonance imaging (MRI) of right elbow showing ulnar neuropathy at the cubital canal (enlarged ulnar nerve with high short tau inversion recovery ([clinicalgate.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Shoulder Fracture

    2012 ICD-9-CM Diagnosis Code 812.00 Closed fracture of unspecified part of upper end of humerus Short description: Fx up end humerus NOS-cl.[icd9data.com] The latter is more usual in cases in which the proximal fragment of the shaft of the humerus was too short to allow adequate manipulation [ 6 ].[casesjournal.biomedcentral.com] Predictors of humeral head ischemia after intracapsular fracture of the proximal humerus.[bonetalks.com]

    Missing: All Reported Mutations Have Occurred De Novo

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