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1,536 Possible Causes for Abnormal Spine X-Ray, Dysmorphic Face, Variable Malocclusions

  • Osteogenesis Imperfecta

    The sclera have variable hues. In utero fractures are common. Limb shortening and progressive deformities can occur.[web.archive.org] […] bone disease by taking X-rays.[healthline.com] Subtle dysmorphism, log face with prominent mandible and large ears, macroorchidism in postpubertal males, behavioral abnormalities, due to lack of FMR1 in areas such as the[en.wikipedia.org]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    Figure 1 X-rays of some of the cases described.[ojrd.biomedcentral.com] face pelvic scapula dysplasia Short stature heart defect craniofacial anomalies Short stature hyperkaliemia acidosis Short stature locking fingers Short stature mental retardation[wikidoc.org] face pelvic scapula dysplasia Short stature hyperkaliemia acidosis Short stature mental retardation eye anomalies Short stature microcephaly seizures deafness Short stature[personalizedcause.com]

    Missing: Variable Malocclusions
  • Pyknodysostosis

    The patient presented the mouth deformity described by most of the reports, however, as the three cases reported by Hunt et al, presented different types of malocclusion ([jisppd.com] Lumbar spine X-rays showed reduced inter-vertebral spaces. Figure 1 Figure 1: Pigmy like faces, beaked nose, receding jaw and obtuse mandibular angle Figure 2 Figure 2.[ispub.com] […] accentuated overbite, bilateral cross bite, and biprotrusion, respectively), it may be considered that the presentation of the relationship between the arches is variable.[jisppd.com]

  • Marfan Syndrome

    Diagnosis Clinical criteria Genetic testing Echocardiography/MRI (measurement of the aortic root, detection of valve prolapse) Slit-lamp examination (lens abnormalities) X-rays[merckmanuals.com] […] of skeletal system (hand, spine, pelvis, chest, foot, and skull for characteristic abnormalities) MRI of the lumbosacral spine (dural ectasia) Diagnosis of Marfan syndrome[merckmanuals.com]

    Missing: Variable Malocclusions
  • Skeletal Dysplasia

    Many different skeletal dysplasias have abnormalities of the spine, metaphyses, and epiphyses apparent on x-ray.[ncbi.nlm.nih.gov] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

    Missing: Variable Malocclusions
  • Schwartz-Jampel Syndrome

    The most common X-ray abnormality observed in patients with Schwartz-Jampel syndrome is prominent sternum and hip dysplasia.[cags.org.ae] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] The characteristic X-ray appearance of the hip and spine becomes more evident with age usually toward the end of the first year.[cags.org.ae]

    Missing: Variable Malocclusions
  • Cleidocranial Dysplasia

    […] numbers of supernumerary teeth along with dental crowding, and malocclusion Hand abnormalities including brachydactyly, tapering fingers, and short, broad thumbs Short stature[ncbi.nlm.nih.gov] The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[ncbi.nlm.nih.gov] […] midline due to clavicular hypoplasia or aplasia (see Figure 1 ) Abnormal dentition including delayed eruption of secondary dentition, failure to shed the primary teeth, variable[ncbi.nlm.nih.gov]

    Missing: Abnormal Spine X-Ray
  • Mucopolysaccharidosis 4

    […] assessed by dual-energy X-ray absorptiometry (DXA), and d) radiographs of the skeletal system.[termedia.pl] Compared to other MPS types, the majority of patients with MPS IVA face a severe dysmorphic stature with predominantly skeletal problems [ 3 ].[journals.plos.org] Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done.[omicsonline.org]

    Missing: Variable Malocclusions
  • Simpson Dysmorphia Syndrome

    Some individuals have an abnormal curving and twisting of the spine (scoliosis), extra ribs, and/or problems with the structure of the bones of the spine.[chdbabies.com] […] hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual[se-atlas.de] Some individuals have an abnormal curving and twisting of the spine ( scoliosis ), extra ribs, and/or problems with the structure of the bones of the spine.[encyclopedia.com]

    Missing: Variable Malocclusions
  • Spondylocostal Dysostosis

    In physical examination on the admission such abnormalities as growth and body mass deficit, lack of body proportions, marked biarcuate scoliosis of thoraco-lumbal spine,[stary.lf2.cuni.cz] Figure 2: (a) Chest X-ray PA view showing crowding of ribs characteristic 'crab-like' appearance of ribs.[ijaweb.org] A X-ray and CT examinatins revealed complex anomaly a dystrophy of upper and middle part of thoracic spina (a dysraphia type ) in a form of not fully develop rachischisis[stary.lf2.cuni.cz]

    Missing: Variable Malocclusions