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18 Possible Causes for Brachydactyly, Mild Rib Sclerosis

  • Pseudoachondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus[ncbi.nlm.nih.gov] Beside visibly short forearms, short, broad and ulnar deviation of the hands, brachydactyly and joint hyperlaxity, the radiographic picture showed markedly flared metaphyses[ncbi.nlm.nih.gov]

  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] […] displacement of the midface and depressed nasal bridge Shortening of the arms with redundant skin folds on limbs Limitation of elbow extension Shortened fingers and toes (brachydactyly[rarediseases.org] ; fingers are stubby Average adult height is about 4 feet tall Achondroplasia 1.[slideshare.net]

  • Skeletal Dysplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] She had also brachydactyly, small nails, strabismus and delay of menarche.[ncbi.nlm.nih.gov] Platyspondylic lethal skeletal dysplasia (PLSD) Torrance type (PLSD-T) is a rare skeletal dysplasia characterized by platyspondyly, brachydactyly, and metaphyseal changes.[ncbi.nlm.nih.gov]

  • Multiple Epiphyseal Dysplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Radiographs revealed hip dysplasia, brachydactyly and scoliosis in patient 1. Radiological examinations in patient 2 also showed hip dysplasia recently.[ncbi.nlm.nih.gov] The measurement of metacarpo-phalangeal profiles allowed an objective and quantitative assessment of brachydactyly.[ncbi.nlm.nih.gov]

  • Congenital Cortical Hyperostoses

    rib sclerosis, mild clavicular sclerosis, mild vertebral body sclerosis, metacarpal and metatarsal diaphyseal endosteal sclerosis.[iofbonehealth.org] Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly Metaphyseal Dysplasia without Hypotrichosis Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy[rgd.mcw.edu] […] syndrome type E [醫]短指綜合征E型,短趾綜合征E型 Brachydactyly-spherophakia syndrome [醫]短指-球形晶狀體綜合征,短趾-球形晶狀體綜合征 Brachymorphy with spherophakia syndrome [醫]矮型伴球形晶狀體綜合征 Brailsford-Morquio[fastdict.net]

  • Osteosclerosis

    rib sclerosis, mild clavicular sclerosis, mild vertebral body sclerosis, metacarpal and metatarsal diaphyseal endosteal sclerosis.[iofbonehealth.org] After parathyroidectomy, brachydactyly and osteosclerosis of the distal phalanges were observed; the phalanx of the thumbs healed with shortened and sclerotic beaked appearance[ncbi.nlm.nih.gov] Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly Metaphyseal Dysplasia without Hypotrichosis Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy[rgd.mcw.edu]

  • Autosomal Dominant Mental Retardation 21

    There are marked thickening and sclerosis of the skull and whole facial bones. The ribs are also thickened and sclerotic.[iofbonehealth.org] Differential diagnosis includes: brachydactyly type E, pseudohypoparathyroidism 1a or pseudopseudohypoparathyroidism.[iofbonehealth.org] […] type E2 Brachydactyly, Intraventricular Septal Defect, and Deafness Brachymesomelia Renal Syndrome branched-chain keto acid dehydrogenase kinase deficiency Branchiogenic-Deafness[rgd.mcw.edu]

  • Osteogenesis Imperfecta

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Achondrogenesis type 1B includes extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by[ncbi.nlm.nih.gov] The changes involve areas of bone sclerosis intermingled with areas of resorption.[doi.org]

  • Chondrodystrophy

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Decline in growth rate to below the standard growth curve by approximately age two years, leading to moderately severe disproportionate short-limb short stature Moderate brachydactyly[ncbi.nlm.nih.gov] Pseudoachondroplasia is an osteochondrodysplasia made distinctive by disproportionate short stature, hip and knee deformitirs, brachydactly (short fingers) and ligamentous[en.wikipedia.org]

  • Sclerocornea

    His skeletal survey showed retrognathia, mild thickening of skull, sclerosis of mastoid cells, thoracic and lumbar scoliosis, gracile ribs, narrow iliac, slender long bones[ashg.org] […] recessive myopathy with external ophthalmoplegia Choroideremia Chronic endophthalmitis Coats disease Cogan syndrome Cogan-Reese syndrome Coloboma of macula Coloboma of macula-brachydactyly[se-atlas.de] , mild bowing of femur and fibula, shortened ulna not articulated with the radius, long metatarsus, bilateral valgus deformity of the halluces and osteopenia.[ashg.org]

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