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19 Possible Causes for Lethal Micromelic Dwarfism

  • Thanatophoric Dysplasia Type 2
  • Thanatophoric Dysplasia Type 1
  • Fibrochondrogenesis

    Sillence, Lethal micromelic facial bones sclerosis dysplasia, The British Journal of Radiology, 65, 780, (1137), (1992). A. Bankier, D. Fortune, J. Duke and D. O.[dx.doi.org] K Kozlowski, E John, J Masel, S Muralinath and G Vijayalakshmi, Neonatal platyspondylic dwarfism—a new form, The British Journal of Radiology, 68, 815, (1254), (1995).[dx.doi.org]

  • Thanatophoric Dysplasia

    Abstract Thanatophoric dysplasia (TD) is the most common form of lethal neonatal dwarfism with micromelic shortening of the limbs, macrocephaly, platyspondyly, and reduced[ncbi.nlm.nih.gov] Types thanatophoric dysplasia type 1 thanatophoric dysplasia type 2 Synopsis systemic anomalies lethal disproportinate dwarfism micromelic dwarfism severe growth deficiency[humpath.com] Thanatophoric dysplasia: A form of short-limbed (micromelic) dwarfism that usually causes death within the first few hours after birth.[medicinenet.com]

  • Atelosteogenesis

    Clinically, the patients have micromelic dwarfism with incurvated legs, club feet, often dislocation of the elbows, and, rarely, a cleft palate.[ncbi.nlm.nih.gov] Article Atelosteogenesis First published: September 1982 Cited by: 56 Abstract The name atelosteogenesis is proposed for a lethal chondrodysplasia characterized by deficient[onlinelibrary.wiley.com] Abstract The name atelosteogenesis is proposed for a lethal chondrodysplasia characterized by deficient ossification of various bones, notably the humerus, femur, thoracic[doi.org]

  • Achondrogenesis

    The clinical, pathological, and radiological features of 2 male sibs with a severe and lethal form of micromelic dwarfism are desribed.[ncbi.nlm.nih.gov]

  • Schneckenbecken Dysplasia

    , micromelic Intrauterine development Polyhydramnios Stillborn or lethal in the neonatal period Limbs Abnormality Brachydactyly Show images Precociously ossified carpal bones[datagenno.com] Forum Members Presentation, Natural History and Genetics List of Genes Reorder Groups Close Signs / Symptoms (18) Craniofacial Flat midface Macrocephaly Show images Growth Dwarfism[datagenno.com]

  • Platyspondylic Lethal Skeletal Dysplasia Type San Diego

    Types thanatophoric dysplasia type 1 thanatophoric dysplasia type 2 Synopsis systemic anomalies lethal disproportinate dwarfism micromelic dwarfism severe growth deficiency[humpath.com] Thanatophoric dysplasia: A form of short-limbed (micromelic) dwarfism that usually causes death within the first few hours after birth.[medicinenet.com] Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more common form of short-limbed dwarfism that[medicinenet.com]

  • Raine Syndrome

    Enumerate the defects and identity the pathology 77 thanks, 29 comments 19 Nov 2015 Thank Share Post Verified response THANATOPHORIC DWARFISM - most common lethal form of[dailyrounds.org] dwarfism which is caused by gain-of-function mutations in FGFR3 that differ from those in achondroplasia... affected child have micromelic shortening of limbs,frontal bossing[dailyrounds.org]

  • Dyssegmental Dysplasia Type Rolland-Desbuquois

    Dyssegmental dwarfism(s). Lethal anisospondylic campto- micromelic dwarfism, Birth Defects 14,193.[dev.docslide.net] Definition: Lethal form of micromelic dwarfism characterized by disorganization of the vertebral bodies, camptomelia and micromelia.[sonoworld.com] It consists in a lethal form of micromelic dwarfism characterized by disorganization of the vertebral bodies, camptomelia and micromelia.[omicsonline.org]

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