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17 Possible Causes for Mild Rib Sclerosis, Short Extremities, Short Finger

  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] ; fingers are stubby Average adult height is about 4 feet tall Achondroplasia 1.[slideshare.net] […] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor[medlink.com]

  • Pseudoachondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] […] stature, deformity of the lower limbs, short fingers, and ligamentous laxity give pseudoachondroplasia its distinctive features.[en.wikipedia.org] He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile.[ncbi.nlm.nih.gov]

  • Schmid Metaphyseal Chondrodysplasia

    Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees.[genecards.org] Short middle phalanx of finger Short middle bone of finger 0005819 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 Showing of 30 Last updated: 12/1/2018 Making[rarediseases.info.nih.gov] Bowing of the extremities, mild short stature and a waddling gait are evident at a young age.[ctgt.net]

  • 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] Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov]

  • Asphyxiating Thoracic Dysplasia

    There is mild platyspondyly and generalised shortening of ribs and long bones.[bmcpediatr.biomedcentral.com] The baby was also found to have a narrow thorax, short fingers with postaxial polydactyly in both upper limbs and right lower limb, with syndactyly in right upper and lower[bjmp.org] Short extremities are common with occasional postaxial hexadacyly.[mirc.luriechildrens.org]

  • 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] Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding.[slideshare.net] The phenotype is characterized by brachycephaly, flat face, hypertelorism, low-set ears, hypertrichosis, hypoplastic thorax, as well as short extremities with 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] A: The base of the skull is short and the face is small. B: The bones are disproportionately short and the fingers appear stubby. C: The femurs are short and thick.[radiologykey.com] […] of top and bottom extremities (fig.), and also a clavicle and a mandible.[bigmed.info]

  • Chondrodystrophy

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Pseudoachondroplasia is an osteochondrodysplasia made distinctive by disproportionate short stature, hip and knee deformitirs, brachydactly (short fingers) and ligamentous[en.wikipedia.org] Type 1 (short limb dysplasia), the more common of the two, is characterised by a long trunk and extremely shortened extremities.[en.wikipedia.org]

  • 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] Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding. Flat feet are very common.[en.wikipedia.org] Patients carrying mutations within the five-aspartates repeat (aa 469-473) in the seventh CLR were extremely short (below -6 SD).[ncbi.nlm.nih.gov]

  • Osteosclerosis

    rib sclerosis, mild clavicular sclerosis, mild vertebral body sclerosis, metacarpal and metatarsal diaphyseal endosteal sclerosis.[iofbonehealth.org] Patients with pyknodysostosis present with a complex of characteristic features, including dwarfism; pectus excavatum; short fingers from acro-osteolysis ( Fig 4 ); and hypoplasia[pubs.rsna.org] Pyknodysostosis is, on the other hand, characterized by a short stature, short extremities and an enlarged skull with misplaced teeth.[symptoma.com]

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