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21 Possible Causes for Desbuquois Dysplasia, 'Erlenmeyer Flask' Deformity of the Femurs, Thick Lips

  • Hypertrichotic Osteochondrodysplasia

    […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de] deformity of the femurs, enlarged medullary canal, and generalized osteopenia (Cantu et al. 1982).[rrnursingschool.biz] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[rarediseases.info.nih.gov]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] Other[edit] Deformity type Erlenmeyer flask gives a distal femur similar to an Erlenmeyer flask.[en.wikipedia.org] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com]

  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de] A radiologist will look for Erlenmeyer-flask shaped femur bones and ensure that any deformities to cranial bones are minor, to rule out craniometaphyseal dysplasia.[encyclopedia.com] 21 102100 Acromegaloid changes, cutis vertcis gyrata, and corneal leukoma (Rosenthal-Kloepfer syndrome) 22 102150 Acromegaloid facial appearance syndrome (AFA syndrome) (Thick[becomerich.lab.u-ryukyu.ac.jp]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    , cartilage-hair dysplasia, chondrodysplasia, desbuquois dysplasia, fibular hypoplasia, Meier-Gorlin syndrome, metaphyseal dysplasia, ostogenesis imperfecta, pycnodystosis[genomeweb.com] Blepharophimosis / short palpebral fissures - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Ptosis - Thick[csbg.cnb.csic.es] A deformity of the distal femur in the shape of an Erlenmeyer flask is commonly found which is due to aseptic necrosis of the femur joint (Syphilis/ Sycosis).[homeopathyworldcommunity.ning.com]

  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] In addition to the Erlenmeyer flask-like deformities, osteopenia with pathologic fracture, bone infarcts, and osteomyelitis are the other skeletal complications.[basicmedicalkey.com] A severely hydropic fetus with a swollen face with a bipartite nose, thick lips, narrow thorax and micromelic limbs were noted at postmortem examination.[ncbi.nlm.nih.gov]

  • Schwartz-Lelek Syndrome

    PANELES: ACP5 Spondyloenchondrodysplasia with immune dysregulation B3GALT6 Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity CANT1 Desbuquois dysplasia[genda.com.ar] flask' deformity of distal femur (childhood), club-shaped distal femur (adulthood).[iofbonehealth.org] […] lower lip vermilion Abnormal form of the vertebral bodies Aminoaciduria Decreased nerve conduction velocity Short thorax Slurred speech Dysostosis multiplex Vascular skin[mendelian.co]

  • Coxa Valga

    Desbuquois dysplasia 1 MedGen UID: 860583 • Concept ID: C4012146 • Disease or Syndrome Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to[ncbi.nlm.nih.gov] deformity of the femurs, enlarged medullary canal, and generalized osteopenia (Cantu et al. 1982).[rrnursingschool.biz] […] is greatest; - linea aspera, on back of middle third has two lips that diverge; - at or near upper end of linea aspera is nutrient foramen; - linea aspera serves as a site[wheelessonline.com]

  • Platyspondyly

    Desbuquois dysplasia 1 MedGen UID: 860583 • Concept ID: C4012146 • Disease or Syndrome Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to[ncbi.nlm.nih.gov] flask deformity of the femurs Pectus carinatum Single umbilical artery Anxiety Osteoporosis Decreased fibular diameter Fractured radius Multiple rib fractures Beaded ribs[mendelian.co] lips with a small mouth.[mendelian.co]

  • Nivelon-Nivelon-Mabille Syndrome

    […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de] flask deformity of the femurs Bilateral coxa valga Congenital, generalized hypertrichosis Concentric hypertrophic cardiomyopathy Generalized hypertrichosis Kyphoscoliosis[mendelian.co] […] limb anomaly as a major feature Dysostosis with predominant craniofacial involvement Dysostosis with predominant vertebral and costal involvement Dysostosis, Stanescu type Dysplasia[se-atlas.de]

  • Ulna Metaphyseal Dysplasia Syndrome

    Dyssegmental dysplasia, Rolland-Desbuquois type. Newborn male. Note short tubular bones with metaphyseal widening, and lateral bowing of tibias and fibulas.[rrnursingschool.biz] A radiologist will look for Erlenmeyer-flask shaped femur bones and ensure that any deformities to cranial bones are minor, to rule out craniometaphyseal dysplasia.[encyclopedia.com] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com]

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