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464 Possible Causes for Barrel Chest, Narrow Greater Sacrosciatic Notch, Severely Disproportionate Short Stature

  • Dyggve-Melchior-Clausen Syndrome

    The upper part of the body seems to be more severely affected and a pigeon-shaped (or barrel) chest is one of the hallmarks of Dyggve-Melchior-Clausen syndrome.[symptoma.com] greater sacrosciatic notches 0003375 Prominent sternum 0000884 Severe global developmental delay 0011344 Short femoral neck Short neck of thighbone 0100864 Short metacarpal[rarediseases.info.nih.gov] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    Additional findings included prognathism, small teeth, a large tongue, barrel chest, thoracic kyphosis, lumbar hyperlordosis, and limited extension of the elbows but marked[jmg.bmj.com] greater sacrosciatic notches 0003375 Narrow vertebral interpedicular distance 0008450 Short femoral neck Short neck of thighbone 0100864 Short ribs 0000773 Vertebral hypoplasia[rarediseases.info.nih.gov] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net]

  • Anauxetic Dysplasia

    Additional findings included prognathism, small teeth, a large tongue, barrel chest, thoracic kyphosis, lumbar hyperlordosis, and limited extension of the elbows but marked[jmg.bmj.com] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] Other skeletal abnormalities in anauxetic dysplasia include a barrel-shaped chest and a rounded upper back that also curves to the side ( kyphoscoliosis ).[elbiruniblogspotcom.blogspot.com]

    Missing: Narrow Greater Sacrosciatic Notch
  • Spondyloepiphyseal Dysplasia Congenita

    We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment[ncbi.nlm.nih.gov] Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately[diseaseinfosearch.org] An autosomal condition of neonatal onset (OMIM:183900) characterised by shortened trunk, neck and proximal extremities, barrel chest, spinal involvement, and variably accompanied[medical-dictionary.thefreedictionary.com]

    Missing: Narrow Greater Sacrosciatic Notch
  • Platyspondyly

    chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities[mendelian.co] greater sacrosciatic notches Corneal opacity Thoracolumbar kyphosis Postnatal growth retardation Respiratory tract infection Kyphoscoliosis Severe short stature Arrhythmia[mendelian.co] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co]

  • Spondyloperipheral Dysplasia

    chest Barrel chest 0001552 Brachydactyly Short fingers or toes 0001156 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Broad thumb Broad thumbs Wide/broad thumb[rarediseases.info.nih.gov] […] by severe disproportionate short stature of prenatal onset.[emedicine.medscape.com] Category Subcategory Feature Chest External Features Pectus carinatum Barrel-shaped chest Growth Height Short stature Head And Neck Face Midface hypoplasia [ EoM Image ] Further[mnglabs.com]

    Missing: Narrow Greater Sacrosciatic Notch
  • Spondyloepimetaphyseal Dysplasia Type Strudwick 

    Other features can include: club feet cleft palate severe osteoarthritis in the hips weak hands and feet barrel-chested appearance Diastrophic dysplasia.[littlepeopleoftheworld.org] greater sacrosciatic notches ; Pectus carinatum ; Pes planus ; Platyspondyly ; Protuberant abdomen ; Scoliosis ; Severe short stature ; Spondyloepimetaphyseal dysplasia Associated[mousephenotype.org] SMS is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk, with a barrel-shaped chest. [1] Here we report a case of SMS, presenting[jiaomr.in]

    Missing: Severely Disproportionate Short Stature
  • Kniest Dysplasia

    Symptoms of Kniest dysplasia can include: Short limbs Shortened body trunk, making the child appear barrel-chested Scoliosis Hip dysplasia, in which the two hip joints are[chop.edu] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery.[jmg.bmj.com] SYMPTOMS: At birth: Short limbs, barrel-chest, eye problems, joints that do not extend all the way and may be swollen, decreased hearing, cleft palate, and a round mid-face[ksginfo.org]

    Missing: Narrow Greater Sacrosciatic Notch
  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    The X-linked recessive form (SEDL) affects men and is characterized by reduced height, arm span exceeding total height, and barrel chest deformity.[ncbi.nlm.nih.gov] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong[monarchinitiative.org] chest deformity, and early development of degenerative joint disease.[ncbi.nlm.nih.gov]

    Missing: Narrow Greater Sacrosciatic Notch
  • Pulmonary Emphysema

    Signs of emphysema include: tachypnea absence of cyanosis pursed-lip breathing, tripod position chest hyperinflation "barrel chest" reduced breath sounds hyper-resonant to[radiopaedia.org] The emphysema is very thin, malnourished, with increased rib cage, called a barrel chest.[tabletsmanual.com]

    Missing: Narrow Greater Sacrosciatic Notch Severely Disproportionate Short Stature