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

Did you mean: Dwarfism, - Short Trunk, Short-Limbed, Lordosis

  • Achondroplasia

    Growth hormone treatment seems to have only modest short term success and to lack long term benefits.[] In general, dwarfism caused by skeletal dysplasias results in what is known as disproportionate short stature — meaning the limbs and the trunk are not of the same proportion[] Bony characteristics such as vertebral anomalies, lordosis and lumbar scoliosis, limited mouth opening and cervical spine instability make the administration of anesthesia[]

  • Pseudoachondroplasia

    Pseudoachondroplasia: A Rare Cause of Short Limbed Dwarfism, J Compr Ped. 2017 ; 8(1):e39867. doi: 10.5812/compreped.39867 .[] Abstract A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly,[] […] her rhizomelic dwarfism became increasingly visible, and since completed 15 months of age, when she started to walk, the disease was complicated with genu varum, lumbar lordosis[]

  • Hypochondroplasia

    Differential diagnosis is from other types of short-limbed dwarfism, particularly achondroplasia.[] Early recognition of this disorder is possible from the abnormal body proportions with short limbs and lumbar lordosis without facial stigmata of achondroplasia.[] Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[]

  • Diastrophic Dysplasia

    Clinical description At birth, infants have bilateral clubfoot, short limb deformation of the wrists and abducted thumbs.[] Patients at risk for skeletal dysplasia could benefit from the enhancements of ultrasound techniques.[] The average lordosis in the last radiograph was 17(degrees) (range 4 degrees -55(degrees)).[]

  • Cartilage Hair Hypoplasia

    This complication suggests that live viral vaccines should not be administered to children with short-limbed dwarfism until the form of short-limbed dwarfism is established[] Disproportionate short-limb short stature is the hallmark finding and is usually recognized in the newborn and occasionally prenatally.[] 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[]

  • Schmid Metaphyseal Chondrodysplasia

    Abstract Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies,[] Background: The incidence of skeletal dysplasia is one in 5000, however individually these conditions are rare and prognosis unclear.[] 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[]

  • Kniest Dysplasia

    Sonography revealed only short limbs in the fetus.[] Abstract Kniest dysplasia is an autosomal-dominant chondrodysplastic condition characterized by disproportionate dwarfism, short trunk, small pelvis, kyphoscoliosis, short[] Patients develop severe dorsal kyphosis or kyphoscoliosis and lumbar lordosis. Synonym: Swiss cheese cartilage syndrome[]

  • Hallermann Syndrome

    Sabinas Brittle Hair Syndrome Saethre-Chotzen Syndrome Scalp-Ear-Nipple Syndrome Schinzel-Giedion Midface Retraction Syndrome Schopf-Schulz-Passarge Syndrome Sener Syndrome Short-Limb[] […] multiple systems Q87.0 Congenital malformation syndromes predominantly affecting facial appearance Q87.1 Congenital malformation syndromes predominantly associated with short[] Dysplasia with Severe Combined Immunodeficiency Teeth, Congenital Absence of, with Taurodontia and Sparse Hair Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears[]

  • SPONASTRIME Dysplasia

    Abstract Sponastrime dysplasia (SD) is a dwarfing autosomal recessive short-limb bone dysplasia.[] dysplasia.[] Abstract We report on a 6-year-old girl with SPONASTRIME dysplasia, characterized by short-limbed dwarfism, a relatively large head, midfacial hypoplasia, a saddle nose, moderate[]

  • Wolcott-Rallison Syndrome

    Dwarfing conditions are frequently referred to as short-limb or short-trunk types, according to whether the limbs or trunk is more extensively involved.[] Skeletal dysplasia generally manifests within the 1st or 2nd year of life, and is associated with short stature (dwarfism with short trunk).[] There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum.[]

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