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2,399 Possible Causes for Cartilage Biopsy Abnormal, Severely Disproportionate Short Stature, Ventricular Septal Defect

  • Ellis-Van Creveld Syndrome

    On cardiac evaluation, ventricular septal defect was found. There were no neonatal teeth. A diagnosis of EVC syndrome was made based on the findings.[ncbi.nlm.nih.gov] The syndrome has several typical features: chondrodysplasia resulting in disproportionate short stature, bilateral postaxial polydactyly of the hands, ectodermal dysplasia[jbsr.be] septal defect.[ncbi.nlm.nih.gov]

  • Chondrodystrophy

    […] dysfunction【心室機能不全】 *ventricular hypertrophy【心室性肥大】 *ventricular septal defect【心室中隔欠損症】(略 VSD) *ventriculitis【脳室炎】 *venulitis【細静脈炎】 *verumontanitis【精丘炎】 *verruca vulgaris[medo.jp] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org]

  • Chondrodysplasia Punctata

    The presence of physical deformities at birth indicates RCDP, and x-rays and other imaging tests will show abnormalities in bones and cartilage development.[disability-benefits-help.org] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[dnatesting.uchicago.edu] […] due to abnormal proteins in the cells.[disability-benefits-help.org]

  • Rheumatoid Arthritis

    septal defect and congenital arterial malformation Both EULAR and BSR-BHPR guidelines recommend avoiding treatment with abatacept during pregnancy, due to the lack of data[emedicine.medscape.com] […] lip/palate Congenital aortic anomaly Meningocele Pyloric stenosis Skull malformation Trisomy 21 with premature rupture of membranes at 17 weeks and subsequent infant death Ventricular[emedicine.medscape.com]

    Missing: Severely Disproportionate Short Stature
  • Saldino-Noonan Syndrome

    […] autopsy bilateral biopsy blastoma bron bronchial bronchogenic cyst bronchopulmonary dysplasia bronchus carcinoma cartilage cells chest cilia cleft clinical congenital diaphragmatic[books.google.com] Echocardiography showed dextrocardia with ventricular septal defect. MRI abdomen corroborated USG findings.[pediatriconcall.com] […] progresses to true and disproportionate microcephaly ; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs[lookfordiagnosis.com]

  • Cartilage Hair Hypoplasia

    Biopsy shows hypoplasia (underdevelopment) of cartilage to be the nature of the skeletal abnormality. The hair is unusually fine, sparse and light-colored.[medicinenet.com] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[ncbi.nlm.nih.gov]

    Missing: Ventricular Septal Defect
  • Anauxetic Dysplasia

    Defect Atrioventricular Septal Defect Autosomal Dominant Progressive External Ophthalmoplegia Autosomal Idiopathic Short Stature Autosomal Recessive Progressive External[ddccliniclab.org] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] Dysplasia Andersen Tawil Syndrome Angelman Syndrome Anophthalmia and Microphthalmia Aortic Valve Disease Arginine Glycine Amidinotransferase Deficiency Arrhythmogenic Right Ventricular[ddccliniclab.org]

    Missing: Cartilage Biopsy Abnormal
  • Leri-Weill Dyschondrosteosis

    Abstract Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic[ncbi.nlm.nih.gov] Predominant and more severe in female (female-to-male ratio 4:1). Stature is short and disproportionate (adult height 135 cm [53.1 inches]).[accessanesthesiology.mhmedical.com] […] clinical form that includes a disproportionately short stature.[frontiersin.org]

    Missing: Ventricular Septal Defect
  • Schmid Metaphyseal Chondrodysplasia

    The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com] Final height is not as severely affected as in achondroplasia and is usually in the range 130–165 cm. 2.1.1.3.[intechopen.com]

    Missing: Ventricular Septal Defect
  • Growth Failure

    Twin A was born with hypospadias and a small ventricular septal defect.[ahajournals.org] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net] […] include pulmonary stenosis and ventricular septal defects. [6] Intelligence is reported as normal or in the mildly retarded range. [7] IQ range 68–128 reported. [8] As stated[cjhr.org]

    Missing: Cartilage Biopsy Abnormal

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