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115 Possible Causes for Congenital Clubfoot, Short Stature in Children

  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][]

  • Arthrogryposis Multiplex Congenita

    Ponseti IV (ed) (1996) Congenital clubfoot. Fundamentals of treatment. Oxford University Press, Oxford Google Scholar 28.[] An example is an isolated congenital clubfoot.[] Clubfoot. Congenital hip dislocation. Skin webs. Decreased muscle mass. Congenital vertical talus or calcaneal valgus deformity.[]

  • Skeletal Dysplasia

    clubfoot and digital deformities, especially the thumb in permanent abduction, facilitates recognition of this pathological condition.[] Skeletal dysplasias are a group of genetic disorders characterized by short stature. They are frequently associated with a range of orthopaedic problems.[] , normal to blue sclera, congenital joint contractures Shortened life span FLNA Frontometaphyseal dysplasia; terminal osseous dysplasia; otopalatodigital syndrome types I[]

  • Osteogenesis Imperfecta

    This paper presents the case of a child with OI type IV who, at birth, was also diagnosed with a severe clubfoot (congenital talipes equinovarus) grade III.[] Despite numerous fractures, restricted activity, and short stature, most adults and children with OI lead productive and successful lives.[] stature Type IV: Bone fractures begin in infancy Children have difficulty growing and have a short stature Diagnosing osteogenesis imperfecta Diagnosing OI is usually based[]

  • Freeman-Sheldon Syndrome

    clubfoot(先天性内反足) Keyword: Freeman-Sheldon syndrome(フリーマン・シェルドン症候群), Poland syndrome(ポーランド症候群), congenital clubfoot(先天性内反足) pp.93-97 発行日 2005年1月1日 Published Date 2005/1/1[] Distal arthrogryposis is the most common known heritable cause of congenital contractures (e.g. clubfoot) and results from mutations in genes that encode proteins of the contractile[] KEYWORDS: arthrogryposis; clubfoot; congenital foot deformities; congenital hand deformities; congenital limb deformities; congenital lower extremity deformities; congenital[]

  • Pseudoachondroplasia

    Clinical description Clinical manifestations may include short stature with a very short trunk and neck and shortened limbs, clubfoot, coxa vara, cleft palate, flat facial[] These children have short stature, with short arms and legs and short fingers.[] Often individuals with short stature will marry other individuals with short stature.[]

  • Atelosteogenesis

    Clubfoot References 1 Citations 3 References 1 Citations 3[] ", keywords "chondrodystrophy, dwarfism, equinovarus foot deformity, fibular agenesis, joint dislocation, Larsen syndrome, rhizomelia, short stature", author "Stern, {H.[] […] the ossif... read more Mentioned in this Paper Spondyloepiphyseal Dysplasia Tarda, X-Linked Dysostoses Gestational Age Maffucci Syndrome Rhizomelic Syndrome Embryopathies Congenital[]

  • Ehlers Danlos Syndrome

    […] dislocation of the hips Talipes equinovarus (clubfoot)[] We recently identified a 42-year-old man with severe kyphoscoliosis, restrictive/obstructive lung disease, short stature, mild hearing loss, decreased muscle mass, and a dissection[] […] dislocation of the hips Talipes equinovarus (clubfoot) Gingival recession 3.[]

  • Scott Bryant Graham Syndrome

    […] with unilateral Aerobic actinomyces infection Craniotubular syndrome Urban Schosser Spohn syndrome clubfoot unsegmented bar Hereditary multiple diaphyseal congenital with[] […] epiphyseal dysplasia Advanced sleep phase syndrome syndrome Hereditary mucoepithelial dysplasia MATN3 related Scoliosis as part of NF Multiple epiphyseal dysplasia with Scoliosis congenital[]

  • Singleton Merten Syndrome

    Ring Chromosome 22, Trisomy Mosaic Chronic Inflammatory Demyelinating Polyneuropathy Churg Strauss Syndrome Citrullinemia Cleft Palate and Cleft Lip Cleidocranial Dysplasia Clubfoot[] Coffin Lowry Syndrome Coffin Siris Syndrome Cogan Reese Syndrome Cohen Syndrome Colitis, Collagenous Common Variable Immunodeficiency Condroplasia Punctata Cone Dystrophy Congenital[]

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