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159 Possible Causes for Dwarfism - Short Trunk, Short-Limbed, Lordosis

  • Achondroplasia

    short limbs.[] Achondroplasia-like dwarfism (distinguish radiologically). Spondyloepiphyseal dysplasias: the spine is mainly affected, with the trunk short as well as the limbs.[] Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis[]

  • Cartilage Hair Hypoplasia

    Before birth Possibly via prenatal ultrasound due to short extremities Genetic sampling if expected After birth X-ray findings Observation of common physical characteristics[] Short-trunk variety (e.g., Kniest syndrome–spondyloepiphyseal) 2.[] Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and[]

  • Pseudoachondroplasia

    Limb X-ray reveals short thickened femur and tibia with metaphyseal widening.[] Achondroplastic dwarfism is characterized by an average-sized trunk, short arms and legs, and a slightly enlarged head and prominent forehead.[] The trunk and limbs are short, making it proportionate dwarfism. The height of adults varies but is often less than 128 cm.[]

  • Mucopolysaccharidosis

    Mucopolysaccharidosis IVA should be suspected in an individual with the following findings 29 : Marked disproportionate short stature with short trunk and normal limbs Respiratory[] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[] History Of Present Illness Patient developed progressive generalized weakness with easy fatigability with his history of shortness of breath upon exertion and while climbing[]

  • Spondylometaphyseal Dysplasia

    Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs.[] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[] Skeletal signs & symptoms are noticeable as the disorder progresses including spine curvature which can either be scoliosis or lumbar lordosis, flattened vertebrae, severely[]

  • Hypochondroplasia

    Hypochondroplasia also has macrocephaly, but lacks the craniofacial features found in other forms of short limb dwarfism.[] […] stature with a long trunk and short limbs, broad and short fingers; the face is normal in appearance. hy·po·chon·dro·pla·si·a ( hī'pō-kon'drō-plā'zē-ă ), [MIM*146000] A skeletal[] Bulky forehead, saddle nose, lumbar lordosis, bowlegs Very common today Autosomal dominant The iliac wings are short and squared off Narrowing of the spinal canal Achondroplasia[]

  • Schmid Metaphyseal Chondrodysplasia

    Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.[] trunk dwarfism.[] Short limbed dwarfism Bowed legs (genu varum) Flaring of bones of the lowe rib cage lumbar lordosis hip deformities (coxa vara) Waddling gait Arthritis later in life *Please[]

  • Spondylocarpotarsal Synostosis

    The limbs are short, bowed and rigid. Iliac bones can be small.[] short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Epiphyseal dysplasia 0002656 Hyperlordosis[] The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis).[]

  • Spondyloepimetaphyseal Dysplasia Type Shohat

    […] stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe[] Low match BRACHYOLMIA TYPE 2; BCYM2 The term 'brachyolmia' was coined to designate a bone dysplasia characterized clinically by short trunk dwarfism and radiographically by[] We present a 3.5-year-old Mexican boy with disproportionate short stature, peculiar face, short neck, small chest, abdominal distension, lumbar lordosis, short limbs, marked[]

  • Jeune Syndrome

    Diagnosis Jeune syndrome is usually diagnosed at birth based on the chest deformity and short-limbed dwarfism. Severely affected infants will have respiratory distress.[] Upright anteroposterior/lateral radiographs were measured for Cobb angle, kyphosis, lordosis, thoracic width, and thoracic/lumbar spinal height.[] A lateral whole spine radiograph also showed thoracic lordosis was 5 and thoracolumbar kyphosis was 28 (Fig. 2 ).[]

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