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2,929 Possible Causes for Mild Rib Sclerosis, Short Extremities, Tibial Bowing Especially at Ankle

  • 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] , leg pains, bowed legs, increased lordosis, and waddling gait; - upper extremity: - mild wrist swelling; - flexion contractures of the elbows ; - lower extremities - more[wheelessonline.com]

  • 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] It is characterised by deformity of bones increasing with age and by extreme short stature due to repeated childhood fractures.[patient.info]

    Missing: Tibial Bowing Especially at Ankle
  • Pseudoachondroplasia

    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] Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Esra Döğer, Aysun Bideci, Öznur Boyunağa, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Orhun Çamurdan & Peyami Cinaz Aim: Pseudoacondroplasia is a short extremity dwarfism characterized[abstracts.eurospe.org]

    Missing: Tibial Bowing Especially at Ankle
  • 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 baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs) and a disproportionate shortening of the proximal (near the[medicinenet.com]

    Missing: Tibial Bowing Especially at Ankle
  • Mucopolysaccharidosis

    It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com] Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement.[ncbi.nlm.nih.gov] The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[ncbi.nlm.nih.gov]

    Missing: Mild Rib Sclerosis Tibial Bowing Especially at Ankle
  • Pseudohypoparathyroidism

    The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140,000.[en.wikipedia.org] , prevention and management of obesity and short stature, management of ossifications and accurate genetic and prenatal counselling.[doi.org] Types include: Type 1a (OMIM 103580) Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a[en.wikipedia.org]

    Missing: Mild Rib Sclerosis Tibial Bowing Especially at Ankle
  • Down Syndrome

    Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%).[journals.lww.com] […] neck and generous nuchal skin General physical features in patients with Down syndrome may include the following: Shortened extremities Short, broad hands, with short fifth[emedicine.com] Growth retardation was noted in only three patients, with only one of them exhibiting extreme short stature, defined as height below the 5th percentile based on normative[journals.lww.com]

    Missing: Mild Rib Sclerosis Tibial Bowing Especially at Ankle
  • Shwachman Syndrome

    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] Plain film Skeletal features: shortened extremities cup deformity of ribs Ultrasound Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation[radiopaedia.org] Patient characteristics Growth failure resulted in an extremely short stature in some patients, but was never disproportionate of nature.[bloodjournal.org]

    Missing: Mild Rib Sclerosis Tibial Bowing Especially at Ankle
  • Thalassemia

    A lack of oxygen in the bloodstream causes the signs and symptoms of thalassemias. The lack of oxygen occurs because the body doesn't make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder. No Symptoms Alpha thalassemia silent carriers generally have[…][web.archive.org]

    Missing: Mild Rib Sclerosis Tibial Bowing Especially at Ankle
  • Mucopolysaccharidosis 1

    Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX.[neurology.testcatalog.org] Dysplasia (abnormal bone size and/or shape) and other skeletal irregularities Short and often claw-like hands, Progressive joint stiffness, and carpal tunnel syndrome can[wikidoc.org] MPS VII is extremely rare, affecting approximately 1 in 1,500,000 individuals. MPS IX is a very rare disorder caused by a deficiency of the enzyme hyaluronidase.[neurology.testcatalog.org]

    Missing: Mild Rib Sclerosis Tibial Bowing Especially at Ankle