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14 Possible Causes for Mild Rib Sclerosis, Short Extremities, Short Stature in Children

  • 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] Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov] Despite numerous fractures, restricted activity, and short stature, most adults and children with OI lead productive and successful lives.[checkorphan.org]

  • Shwachman Syndrome

    There is mild platyspondyly and generalised shortening of ribs and long bones.[bmcpediatr.biomedcentral.com] Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows.[ncbi.nlm.nih.gov] Many children with this disease are short in stature and speech delays and slow development of motor skills are also common.[seattlecca.org]

  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] […] 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] The most common reasons for short stature in children are familial short stature, a difference in the timing of growth (called constitutional growth delay) and, in girls,[gemssforschools.org]

  • Pseudoachondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.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] These children have short stature, with short arms and legs and short fingers.[socialstyrelsen.se]

  • 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] Bowing of the extremities, mild short stature and a waddling gait are evident at a young age.[ctgt.net] […] present with a waddling gait, exaggerated lumbar lordosis, genu varum , and short stature; - additional features include: - mental retardation; - joint contractures; - exophthalmic[wheelessonline.com]

  • 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] 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] According to epidemiological reports, about 2% of all children in the United States have short stature.[howshealth.com]

  • Asphyxiating Thoracic Dysplasia

    There is mild platyspondyly and generalised shortening of ribs and long bones.[bmcpediatr.biomedcentral.com] Short extremities are common with occasional postaxial hexadacyly.[mirc.luriechildrens.org] They are short in stature, and their arms and legs are shorter than most people’s. Another name for Jeune syndrome is asphyxiating thoracic dystrophy.[en.wikipedia.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] Type 1 (short limb dysplasia), the more common of the two, is characterised by a long trunk and extremely shortened extremities.[en.wikipedia.org] Patients are dwarfed, with normal trunks and shortened extremities.[medical-dictionary.thefreedictionary.com]

  • Autosomal Dominant Mental Retardation Type 21

    There are marked thickening and sclerosis of the skull and whole facial bones. The ribs are also thickened and sclerotic.[iofbonehealth.org] Human disorders attributable to a single dominant gene trait conspicuous signs achondroplasia dwarfism, large head, short extremities, short fingers and toes osteogenesis[britannica.com] Affected children have a short stature with an average height below the 5th percentile. Bone age is delayed in the first decade of life.[content.sciendo.com]

  • 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] 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] It is also common that people with the disease are of short stature and have small hands and feet.[socialstyrelsen.se]