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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.[] The syndrome has several typical features: chondrodysplasia resulting in disproportionate short stature, bilateral postaxial polydactyly of the hands, ectodermal dysplasia[] septal defect.[]

  • 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[] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[]

  • 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.[] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[] […] due to abnormal proteins in the cells.[]

  • 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[] […] 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[]

    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[] Echocardiography showed dextrocardia with ventricular septal defect. MRI abdomen corroborated USG findings.[] […] progresses to true and disproportionate microcephaly ; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs[]

  • 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.[] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[]

    Missing: Ventricular Septal Defect
  • Anauxetic Dysplasia

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

    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[] Predominant and more severe in female (female-to-male ratio 4:1). Stature is short and disproportionate (adult height 135 cm [53.1 inches]).[] […] clinical form that includes a disproportionately short stature.[]

    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[] Final height is not as severely affected as in achondroplasia and is usually in the range 130–165 cm.[]

    Missing: Ventricular Septal Defect
  • Growth Failure

    Twin A was born with hypospadias and a small ventricular septal defect.[] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[] […] 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[]

    Missing: Cartilage Biopsy Abnormal

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