Create issue ticket

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[] 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.[]

  • Saldino-Noonan Syndrome

    […] autopsy bilateral biopsy blastoma bron bronchial bronchogenic cyst bronchopulmonary dysplasia bronchus carcinoma cartilage cells chest cilia cleft clinical congenital diaphragmatic[] 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[] […] 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: 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[] 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: 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[] Final height is not as severely affected as in achondroplasia and is usually in the range 130–165 cm.[]

    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[]

    Missing: Polysyndactyly
  • Prata-Libéral-Gonçalves Syndrome

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

    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[] Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Craniosynostosis-intracranial calcifications syndrome Craniotelencephalic dysplasia Crisponi syndrome Crossed[] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[]

  • 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,[…][]

    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[] A tissue cartilage biopsy can also be conducted which will reveal inflammation in cases of Relapsing Polychondritis. What Are Treatments For Relapsing Polychondritis?[] […] show characteristic abnormalities but is not required for diagnosis.[]

    Missing: Polysyndactyly Severely Disproportionate Short Stature

Similar symptoms