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21 Possible Causes for Desbuquois Dysplasia, Ovoid-Shaped Vertebral Bodies, 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] vertebral bodies (childhood); Cuboid-shaped vertebral bodies (post-puberty); [Pelvis]; Hypoplastic ishchiopubic rami; Coxa valga; Narrow obturator foramen; [Limbs]; Widened[genome.jp] […] 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]

  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] (B) Lateral radiograph showing characteristic ovoid anterior vertebral body ossification with non-ossified posterior portions, as well as midface hypoplasia.[ncbi.nlm.nih.gov] 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]

  • 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] bodies Increased vertebral height Irregularity of vertebral bodies Ovoid vertebral bodies Patchy distortion of vertebrae Pear-shaped vertebrae Platyspondyly A flattened vertebral[rgd.mcw.edu] lips with a small mouth.[mendelian.co]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] with Dislocation of Radius Czech Dysplasia, Metatarsal Type Desbuquois dysplasia diastrophic dysplasia Dyschondrosteosis and Nephritis Ectodermal Dysplasia, Trichoodontoonychial[rgd.mcw.edu] vertebral bodies Nevus Spasticity Systemic lupus erythematosus Delayed skeletal maturation Short long bone Abnormal facial shape Seizures Bowing of the long bones Spondylometaphyseal[mendelian.co] 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]

  • Geleophysic Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.[orpha.net] lips.[karger.com]

  • Geleophysic Dysplasia 2

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.[orpha.net] lips with a small mouth.[jmg.bmj.com]

  • Chondrodysplasia with Joint Dislocations Type gPAPP

    Mutation of CANT1 causes Desbuquois dysplasia. Am J Med Genet. 2010;152A:1157–60. Google Scholar 45.[link.springer.com] Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies.[mendelian.co] […] upper lip vermilion Hypoplasia of the zygomatic bone Vitreoretinopathy Aplasia cutis congenita Abnormal vitreous humor morphology Thickened calvaria Sparse eyebrow Ectopia[mendelian.co]

  • 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] Group 22 (Dysostosis Multiplex) Mucopolysaccharid oses- Macrocephaly- Thick vault with ‘ground-glass capacity’- ‘J’-shaped sella- Ovoid, hook- shaped vertebral bodies with[slideshare.net] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com]

  • Progressive Pseudorheumatoid Dysplasia

    DYSPLASIA 1; DBQD1 Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal[mendelian.co] […] chest Sensorineural hearing impairment Ovoid vertebral bodies Cervical myelopathy Falls Difficulty climbing stairs Pulmonary hypoplasia Genu valgum Apnea Retrognathia Visual[mendelian.co] […] lower lip vermilion Tetraplegia Macroglossia Sinusitis Hitchhiker thumb Cervical instability Hypoplastic vertebral bodies Radioulnar synostosis Abnormality of the hand Short[mendelian.co]

  • Kniest Dysplasia

    The purpose of this paper is to report a rare case of Dyssegmental dysplasia, Rolland-Desbuquois type from Pakistan.[jpma.org.pk] General Described features include non-ossified epiphyses absent ossification of the pubic bones delayed ossification of the femoral heads flatted ovoid vertebral bodies [radiopaedia.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]

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