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51 Possible Causes for Desbuquois Dysplasia, Thick Lips, Widened Ribs

  • 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] […] 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] Additional findings in most patients included thickened calvarium, broad ribs and metaphyseal widening of long bones with enlarged medullary canals.[orpha.net]

  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[ncbi.nlm.nih.gov] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[emedicine.medscape.com] […] spurs, hypoplastic ischia, short long bones, slight widening of the distal femoral metaphyses, and absence of epiphyseal ossification of the knees.[ncbi.nlm.nih.gov]

  • Metaphyseal Chondrodysplasia, Spahr Type

    Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.it] 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] Affected individuals may have widened collar bones (clavicles), ribs, or bones in the fingers and hands.[icdlist.com]

  • Schneckenbecken Dysplasia

    dysplasia XYLT1 Desbuquois dysplasia type 2[skeldys.org] 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] C: This 2-year-old boy with mucolipidosis has underdevelopment of the supra-acetabular portions of the iliac bones, coxa valga, and widening and tapering of the lower ribs[basicmedicalkey.com]

  • Lenz-Majewski Syndrome

    dysplasia 2 Sequencing of all coding exons of the gene - - 2.9 ZC4H2 Wieacker-Wolf syndrome Sequencing of all coding exons of the gene - - 0.7 ZEB2 Mowat Wilson Syndrome[cegat.de] lips, micrognathia), failure to thrive, mental retardation, sparse hair, enamel hypoplasia, loose skin, and skeletal abnormalities.[accessanesthesiology.mhmedical.com] […] a paediatric patient with several clinical features identical to Camurati-Engleman syndrome, another hyperostotic disorder associated with unusual features of progeria, widened[jpma.org.pk]

  • 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] 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] OMIM: 57 Skin Nails Hair Hair: hypotrichosis Skeletal Pelvis: coxa vara flared iliac wings short femoral neck limited hip abduction Head And Neck Teeth: normal teeth Chest Ribs[malacards.org]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Dysplasia 2 1 Desbuquois Syndrome 1 Desmosterolosis 1 Diabetes Insipidus, Nephrogenic, Autosomal 2 Diabetes Insipidus, Nephrogenic, X-Linked 2 Diabetes Insipidus, Neurohypophyseal[preventiongenetics.com] Extraoral examination of the father and son showed the presence of thick eyebrows, eyelashes, bulbous nose, floppy ears, and thick lips with prominent maxilla and mandible[jdrntruhs.org] The ribs are broad and the clavicles are long. There is frequent hypoplasia of the first ribs, pubis, and distal phalanges.[atlasgeneticsoncology.org]

  • Atelosteogenesis Type 2

    ., Modaff, P. and Pauli, R.M. (2008) A Phenotype Intermediate between Desbuquois Dysplasia and Diastrophic Dysplasia Secondary to Mutations in DTDST.[scirp.org] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[thehealthscience.com] […] and transverse process Spondylocostal dysostosis 111 Fan-like rib cage with rib fusion Larsen syndrome 105 Genu recurvatum, midface hypoplasia, low set ears Cleidocranial[radiologykey.com]

  • 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] […] 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] dysplasia 1 C4012146 OMIM 25 85 HP:0002673 HP:0002673 Coxa valga 0 COL11A1 1301 154780 Marshall syndrome C0265235 OMIM 78 215 HP:0002673 HP:0002673 Coxa valga 0 COL2A1 1280[mseqdr.org]

  • 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] lips with a small mouth.[mendelian.co] , sternum, clavicles, and scapulae]; Anterior cupping of ribs; Widened anterior ribs SKELETAL: Spondylometaphyseal dysplasia; [Spine]; Mild platyspondyly ; [Pelvis]; Lacy[findzebra.com]

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