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258 Possible Causes for Desbuquois Dysplasia, Short Stature in Children

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] According to epidemiological reports, about 2% of all children in the United States have short stature.[howshealth.com] Skeletal dysplasias are a group of genetic disorders characterized by short stature. They are frequently associated with a range of orthopaedic problems.[muhealth.org]

  • Diastrophic Dysplasia

    The new complement of features in this patient fell in a range between Desbuquois dysplasia and diastrophic dysplasia.[ncbi.nlm.nih.gov] Parents should be offered contact with other parents of children of short stature, and the children themselves should also be offered the opportunity to meet children in the[socialstyrelsen.se] Our results further extend the phenotypic spectrum of DTDST mutations, adding Desbuquois dysplasia to the list of differential diagnosis of the DTD group.[ncbi.nlm.nih.gov]

  • Familial Short Stature

    […] type; dyssegmental dysplasia, Rolland‐Desbuquois type; and Schwartz‐Jampel syndrome [ 11 ]. 2.1.2.7.1.[intechopen.com] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] Holmes CS, Karlsson JA, Thompson RG (1985) Social and school competencies in children with short stature: longitudinal patterns.[omicsonline.org]

  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[scilit.net] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[uniprot.org] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[f1000.com]

  • Pseudoachondroplasia

    Dyssegmental dysplasia group 7.分節異常骨異形成症 Dyssegmental dysplasia (Silverman-Handmaker type) 分節異常骨異形成症(Silverman-Handmaker型) Dyssegmentaldysplasia (Rolland-Desbuquois type)[normanet.ne.jp] These children have short stature, with short arms and legs and short fingers.[socialstyrelsen.se] Often individuals with short stature will marry other individuals with short stature.[encyclopedia.com]

  • Seckel Syndrome

    dysplasia type 1 CANT1 Desbuquois dysplasia type 2 XYLT1 Desmosterolosis DHCR24 Diamond Blackfan anemia type 15 with mandibulofacial dysostosis RPS28 Diamond-Blackfan anemia[centogene.com] One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed.[ncbi.nlm.nih.gov] The Seckel syndrome or "bird-headed" dwarfism associates a severe short stature, mental deficiency and various malformations with characteristic facial appearance.[ncbi.nlm.nih.gov]

  • Robinow Syndrome

    Dyssegmental dysplasia group 7.分節異常骨異形成症 Dyssegmental dysplasia (Silverman-Handmaker type) 分節異常骨異形成症(Silverman-Handmaker型) Dyssegmentaldysplasia (Rolland-Desbuquois type)[normanet.ne.jp] Most children with Robinow syndrome experience growth delays after birth, resulting in slight to moderate short stature.[rarediseases.org] The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies.[ncbi.nlm.nih.gov]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    , cartilage-hair dysplasia, chondrodysplasia, desbuquois dysplasia, fibular hypoplasia, Meier-Gorlin syndrome, metaphyseal dysplasia, ostogenesis imperfecta, pycnodystosis[genomeweb.com] […] deformed joints, shortened limb length and short stature due to necrosis of the growth plates of bones and of joint cartilage (Psora/ Syphilis).[homeopathyworldcommunity.ning.com] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[emedicine.medscape.com]

  • Metaphyseal Acroscyphodysplasia

    , Autosomal Dominant Cystinosis, Nephropathic Desbuquois Dysplasia 1 Desbuquois Dysplasia 2 Dyssegmental Dysplasia, Rolland-Desbuquois Type Fibrochondrogenesis 2 Fibrodysplasia[familydiagnosis.com] Jansen type In addition to the above-mentioned signs, Jansen-type metaphyseal chondrodysplasia is characterized by short arms, legs, and stature (short-limbed dwarfism), which[encyclopedia.com] Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it]

  • X-Linked Hypophosphatemia

    […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de] Affected children present with hypophosphatemia resulting in rickets, bowing of the legs and short stature.[bone-abstracts.org] Anthropometric measurements were performed, and to correct for the short stature (small bones), the BMAD of the spine and the femoral neck was evaluated.[ncbi.nlm.nih.gov]

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