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953 Possible Causes for Cartilage Biopsy Abnormal, Polysyndactyly, Severely Disproportionate Short Stature

  • Chondrodystrophy

    […] intestinal polyp【腸ポリープ】 nasal polyp【鼻ポリープ 鼻茸】 *polypathia【多病】 *polyphagia【大食症】 *polyplegia【多発性麻痺】 *polypnea【多呼吸】 *polypodia【多足症】 *polyposis【ポリープ症 ポリポシス】 *polysplenia【多脾症】 *polysyndactyly[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]

  • 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] Polydactyly of hands and feet (inconstant feature) All cases: postaxial polydactyly of hands Some cases: dysplasia of fingernails Minority of cases: polydactyly of feet Postaxial polysyndactyly[fetalultrasound.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: Polysyndactyly
  • 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: Polysyndactyly
  • 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: Polysyndactyly
  • Ellis-Van Creveld Syndrome

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

    Missing: Polysyndactyly
  • Prata-Libéral-Gonçalves Syndrome

    […] anomalies orofaciales Polysyndactylie cardiopathy Polysyndactylie croisee Large Polysyndactylie cuts Polysyndactylie microcephalie ptosis Polysyndactylie trigonocephalie[wikipedia.qwika.com] […] metacarpal Waddling gait Short neck Short femoral neck Joint laxity Abnormal joint morphology Disproportionate short-trunk short stature Enlarged joints Autosomal recessive[mendelian.co] […] cardiac malformation Polysyndactyly microcephaly ptosis Polysyndactyly orofacial anomalies Polysyndactyly overgrowth syndrome Polysyndactyly trigonocephaly agenesis of corpus[bioreference.net]

    Missing: Cartilage Biopsy Abnormal
  • Ulna Metaphyseal Dysplasia Syndrome

    From the histopathological examination of serial bone biopsies carried out in patient 1, we postulate that the normal coupling of hypertrophic cartilage resorption with vascular[academic.oup.com] Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Craniosynostosis-intracranial calcifications syndrome Craniotelencephalic dysplasia Crisponi syndrome Crossed[se-atlas.de] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[flinders.edu.au]

  • Rheumatoid Arthritis

    To review the diagnostic and prognostic value of anti-mutated citrullinated vimentin (MCV) in rheumatoid arthritis, taking into account the already available serology. Medline was searched via PubMed (1966 to May 2008) for anti-MCV and related terms, arthritis and arthropathies. Studies with anti-MCV,[…][ncbi.nlm.nih.gov]

    Missing: Polysyndactyly Severely Disproportionate Short Stature
  • Relapsing Polychondritis

    […] in the nose Inflammation of the eye Cartilage damage in the respiratory tract Hearing or balance problems A biopsy of the affected cartilage (most often from the ear) may[merckmanuals.com] A tissue cartilage biopsy can also be conducted which will reveal inflammation in cases of Relapsing Polychondritis. What Are Treatments For Relapsing Polychondritis?[epainassist.com] […] show characteristic abnormalities but is not required for diagnosis.[merckmanuals.com]

    Missing: Polysyndactyly Severely Disproportionate Short Stature

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