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1,913 Possible Causes for Desbuquois Dysplasia, Neutrophil Count Decreased, Thick Lips

  • Immunodeficiency Type 23

    […] resembling Desbuquois dysplasia.[] […] blood lymphocyte number Low lymphocyte number [ more ] 0001888 Neutropenia Low blood neutrophil count Low neutrophil count [ more ] 0001875 Recurrent respiratory infections[] Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability.[]

  • Aspartylglucosaminuria

    lips and a square shape of face, was found to be present long before the coarsening begins.[] […] consistent dysmorphic gestalt with hypertelorism, a short and broad nose with round nares, simple often small ears with small or missing lobule and modest folding of helices, thick[]

    Missing: Desbuquois Dysplasia
  • Streptococcal Septicemia

    In newborns, characteristic findings of elevated neutrophil counts and protein concentrations and decreased glucose concentrations are obscured by normal elevations of the[] Thick White Discharge From Tonsils Drip Sore Swollen Post Throat Nasal Glands and mucous memane) and lar- ynx but.Colour and tenderness The overlying skin may be red-.[] Nevertheless, extreme elevations in neutrophils (in the absence of grossly bloody taps) or decrease in CSF glucose concentrations (in the presence of normal blood glucose[]

    Missing: Desbuquois Dysplasia
  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    (Spondyloepiphyseal dysplasia, Rolland - Desbuquois dysplasia, Wolcott-Rallisson syndrome, Dyggve-Melchior-Clausen syndrome) Heterogeneous group of rare disorders, characterized[] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 5%-29% of people have these symptoms Cataract Clouding of the lens[] […] conditions: Desbuquois dysplasia Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia type 2 Pseudodiastrophic dysplasia SEMD with joint[]

    Missing: Neutrophil Count Decreased
  • Skeletal Dysplasia

    Abstract We report a boy with Desbuquois dysplasia type 1.[] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[] Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate fingers, fifth finger camptodactyly[]

    Missing: Neutrophil Count Decreased
  • Chronic Myelomonocytic Leukemia

    They had lower WBC and absolute neutrophil count, while the monocyte percentage, hemoglobin and platelet counts were similar in the two groups.[] We report an 84-year-old man with chronic myelomonocytic leukemia who presented with coalescing erythematous papules and plaques on the posterior neck, ear and lower lip,[] His PB count showed an increased WBC count (29.6 10 9 /L), including monocytosis (4.1 10 9 /L) with decreased hemoglobin level (108 g/L) and platelet count (52 10 9 /L).[]

    Missing: Desbuquois Dysplasia
  • Vitamin B12 Deficiency

    Vitamin B12 deficiency is a common cause of neuropsychiatric symptoms in elderly persons. Malabsorption accounts for the majority of cases. Vitamin B12 deficiency has been associated with neurologic, cognitive, psychotic, and mood symptoms, as well as treatment-resistance. Clinician awareness should be raised to[…][]

    Missing: Desbuquois Dysplasia 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[] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[] lips; Gingival hypertrophy; [Neck]; Short neck CARDIOVASCULAR: [Heart]; Cardiomegaly; Pericardial effusions; Congenital hypertrophy of left ventricle; Bicuspid aortic valve[]

    Missing: Neutrophil Count Decreased
  • Kanzaki Disease

    Dentinogenesis imperfecta, Shields type II ( DSPP) Dentinogenesis imperfecta, Shields type III ( DSPP) Denys-Drash syndrome ( WT1) Dermatopathia pigmentosa reticularis ( KRT14) Desbuquois[] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 Tinnitus Ringing in ears Ringing in the ears [ more ] 0000360 Percent[] […] type - See Dyssegmental dysplasia Rolland-Desbuquois type Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type - See Dyssegmental dysplasia Silverman-Handmaker[]

    Missing: Neutrophil Count Decreased
  • Chediak Higashi Syndrome

    Magnetic resonance imaging revealed a well-circumscribed cystic lesion with a thick capsule, and suggested an abscess derived from the mucous cyst in the upper lip.[] A 15-year-old girl presented with an enlarging and painful mass on the upper lip.[]

    Missing: Desbuquois Dysplasia

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