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28 Possible Causes for Variable Expressivity of Each Feature, X-Ray Abnormal

  • Marfan Syndrome

    Diagnosis Clinical criteria Genetic testing Echocardiography/MRI (measurement of the aortic root, detection of valve prolapse) Slit-lamp examination (lens abnormalities) X-rays[merckmanuals.com] Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable expression .[marfan.org] , x-ray studies of the skeletal system for assessment of characteristic abnormalities, and MRI to assess for dural ectasia. [2] Genetic testing is also available for assistance[physio-pedia.com]

  • Endometriosis

    […] and computer technology to produce horizontal, or axial, images — often called slices — of the body to detect any abnormalities that may not show up on an ordinary X-ray[hopkinsmedicine.org] […] of PCOS. [3] The genetic component appears to be inherited in an autosomal dominant fashion with high genetic penetrance but variable expressivity in females meaning that[pejoweb.com] Blood tests did not show abnormalities. An abdominal X-ray showed signs of constipation.[jmedicalcasereports.biomedcentral.com]

  • Hereditary Sensory Neuropathy

    Each HSAN disorder is likely caused by genetic errors that affect specific aspects of small fiber neurodevelopment, which result in variable phenotypic expression. [3] HSAN[ijpd.in] Complete hemogram, urinalysis, chest X-ray, fundoscopy, pure tone audiometry revealed no abnormality.[e-ijd.org] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[doi.org]

  • Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy

    Complete hemogram, urinalysis, chest X-ray, fundoscopy, pure tone audiometry revealed no abnormality.[e-ijd.org] Each HSAN disorder is likely caused by genetic errors that affect specific aspects of small fiber neurodevelopment, which result in variable phenotypic expression. [3] HSAN[ijpd.in] Clinical features, diagnosis and treatment For each of the HSAN disorders, penetrance is complete but there can be marked variability in expression.[ojrd.biomedcentral.com]

  • Pallister W Syndrome

    Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable expression.[marfan.org] X-ray film showing spondylolisthesis (abnormal forward slip of one vertebral body on a neighboring vertebral body), which can lead to cauda equina syndrome.[emedicinehealth.com] Apical ballooning and the tako-tsubo An x-ray of the left ventricle ( A ) shows apical ballooning, a reversible abnormality characteristic of takotsubo cardiomyopathy.[health.harvard.edu]

  • Xeroderma Pigmentosum-Cockayne Syndrome Complex

    Interestingly, most XP patients are not abnormally sensitive to therapeutic X-rays and respond normally to full doses of therapeutic X-radiation for treatment of inoperable[plasticsurgerykey.com] The chest X ray and ultrasonological examination of the abdomen were normal. He had an enucleated left eye with corneal neovascularization in right eye with no vision.[ijpd.in] Different mutations in one gene can give rise to more than one clinical entity (variable expression) and conversely, each clinical entity can arise from mutations in more[plasticsurgerykey.com]

  • Autosomal Dominant Mental Retardation Type 21

    Childhood x-rays show delayed carpal and tarsal ossification.[tsbvi.edu] EEC syndrome: Each of the three main features of ectrodactyly, ectodermal dysplasia and clefting syndrome shows a variable degree of expressivity.[oandplibrary.org] Congenital cataracts Infantile glaucoma Nystagmus Marchesani's Syndrome This is an autosomal recessive syndrome that results in multiple skeletal abnormalities.[tsbvi.edu]

  • Cenani Syndactylism

    The talus, calcaneum, and cuboid bones could be recognised separately, appropriate for chronological age, and X-ray studies of the feet showed no gross abnormalities.[updoc.site] Although some phenotypic overlap between the various types was observed, each type had its distinguishing features.[youscribe.com] Lower extremity abnormalities, deviation and overlapping of the fingers. Figure 2: X-ray images of the patient with Factor XI deficiency (Patient#1). A.[omicsonline.org]

  • Congenital Iris Coloboma

    Chest X-ray showed normal mediastinum and heart size and clear lungs.[nature.com] There was variable expressivity of the phenotypes in affected members, each of whom showed at least one feature, but up to seven features in one of the individuals.[molvis.org] Clinical examination revealed a congenital right upper limb abnormality with an absent thumb.[nature.com]

  • 22q11.2 Duplication Syndrome

    ; Incomplete arch C1; Lack of bony fusion of C1 and dysmorphic C2 C-Spine x-ray: n  59; 71 % abnormal (27 % with C2-C3 fusion).[molecularautism.biomedcentral.com] Thus, exactly determining the specified clinical features for each type of CNVs will facilitate genetic counseling and health care.[journals.plos.org] Skeletal C-Spine x-rays: n  11 C-spine anomaly 45 % (5/11) Slightly large atlantodens interval; Hypoplastic PE of C1 and elongated PE of C2; Exaggerated kyphosis, lordosis[molecularautism.biomedcentral.com]

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