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39 Possible Causes for Absent Pulp Chambers, Low Set Ears, Mildly Flared, Irregular Metaphyses

  • Spondylometaphyseal Dysplasia

    Affiliated tissues include bone, and related phenotypes are low-set ears and short neck[malacards.org] The long bones were short with mildly flared metaphyses. The metaphyses were also extremely irregular and with marginal sclerosis.[updoc.site] , delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage.[diabetes.medicclub.info] set ears Hypotonia Birthweight Hyperphosphatemia Hypocalcemia Hyperphosphatasia Atrial septal defect Clubfeet Partial lissencephaly EEG abnormalities Sedaghatian Opitz et[doctiktak.com]

    Missing: Absent Pulp Chambers
  • X-Linked Mandibulofacial Dysostosis

    ears Low set ears Lowset ears [ more ] 0000369 Specific learning disability 0001328 X-linked inheritance 0001417 Showing of 29 Last updated: 5/1/2019 If you need medical[rarediseases.info.nih.gov] chambers, Pulp obliteration occurs after eruption, Roots of permanent and primary teeth are normal shape and length, Permanent teeth - pulp chambers are abnormally large,[quizlet.com] B, A/P view of the knee showing irregular metaphyses (small arrow) and irregular, small for age epiphyses (large arrow). C, A/P view of the pelvis.[nature.com] UNK DiGeorge syndrome chromosome region CATCH22 22q11 188400 DiGeorge syndrome 188400 AD low-set ears, short ears, small mouth, submucous or overt palatal cleft, cleft lip[widesmiles2.org]

    Missing: Mildly Flared
  • Ulna Metaphyseal Dysplasia Syndrome

    Low-set ears.[autoinflammatory-search.org] (From Hoeffel et al. 2000) apex of the angulation, flared irregular metaphyses, a short narrow chest, mildly dysmorphic facial features, improvement of bone changes with advancing[rrnursingschool.biz] Symptoms - Ulna metaphyseal dysplasia syndrome Wrist pain Thickened wrists Irregular metaphyses Thickened dorsum sellae Wedged vertebrae Causes - Ulna metaphyseal dysplasia[checkorphan.org] Small tubular bones (metacarpals and meta-tarsals) showed irregular metaphyses with normal epiphyses.[indianpediatrics.net]

    Missing: Absent Pulp Chambers
  • Schmid Metaphyseal Chondrodysplasia

    The dysmorphias are represented by triangular face, down‐slanted palpebral fissure, hypertelorism, lowset ears and pterygium colli.[intechopen.com] Epiphyses are only mildly affected (McKusick et al. 1965).[rrnursingschool.biz] Radiographic findings include anterior cupping, sclerosis and splaying of the ribs, diffuse metaphyseal flaring, and irregularity that is most pronounced at the knees, coxa[ncbi.nlm.nih.gov] […] acetabular roof ; Irregular vertebral endplates ; Metaphyseal chondrodysplasia ; Metaphyseal cupping of metacarpals ; Metaphyseal cupping of proximal phalanges ; Mild short[mousephenotype.org]

    Missing: Absent Pulp Chambers
  • Osteoglophonic Dwarfism

    ears Low set ears Lowset ears [ more ] 0000369 Malar flattening Zygomatic flattening 0000272 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased[rarediseases.info.nih.gov] Epiphyses are only mildly affected (McKusick et al. 1965).[rrnursingschool.biz] Increased bone fragility Increased tendency to fractures [ more ] 0002659 Limb undergrowth limb shortening Short limb Short limbs [ more ] 0009826 Long philtrum 0000343 Low-set[rarediseases.info.nih.gov] The association of metaphyseal irregular- Fig. 5.60.[rrnursingschool.biz]

    Missing: Absent Pulp Chambers
  • Skeletal Dysplasia

    The phenotype is characterized by brachycephaly, flat face, hypertelorism, low-set ears, hypertrichosis, hypoplastic thorax, as well as short extremities with brachydactyly[ncbi.nlm.nih.gov] Delayed epiphyseal ossification with irregular epiphyses and metaphyses of the long bones (consistent) Small capital femoral epiphyses, short femoral necks, and irregular, flared[ncbi.nlm.nih.gov] Standing radiographs of the knees showing metaphyseal irregularity and flaring with femoral bowing. 22. Metaphyseal dysplasia. 23. Metaphyseal chondrodysplasia 24.[slideshare.net] set ears Better vertebrae ossification, uniformed ossified fibula, metacarpals and phalanges FLNB AD Boomerang dysplasia (# 112310) Hypertelorism, flat nose, hypoplastic[scielo.br]

    Missing: Absent Pulp Chambers
  • Hypophosphatasia

    […] to thrive short, bowed extremities, generalised hypotonia, a small funnel chest, soft calvaria, very large fontanel, extremely wide cranial sutures, high-arched palate, low-set[bone-abstracts.org] Odontohypophosphatasia (AR or AD) Bone: loss of alveolar bone Dental: exfoliation (incisors) reduced dentin thickness enlarged pulp chambers caries AD: autosomal dominant[ada.org] Radiological signs may be less obvious characterized by irregular metaphyses and generalized hypomineralization.[ncbi.nlm.nih.gov] ) osteoporosis generalized (usually irregular) metaphyseal changes craniosynostosis bowing of the long bones Complications are primarily those of hypercalcemia.[radiopaedia.org]

    Missing: Mildly Flared
  • Spondyloepimetaphyseal Dysplasia - Abnormal Dentition

    Her ears were low set and her hair was normal (Figure 1A).[raredisorders.imedpub.com] Another related syndrome "familial otodentodysplasia" is characterized by the posterior teeth with abnormal morphology, large pulp chambers, short root length compared to[indjos.com] (C) The metaphyses are mildly flared with abnormal mineralisation and irregular margins. (D) At 11 years the distal metaphysis of the radius is slightly flared.[jmg.bmj.com] Standing radiographs of the knees showing metaphyseal irregularity and flaring with femoral bowing. 22. Metaphyseal dysplasia. 23. Metaphyseal chondrodysplasia 24.[slideshare.net]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Edward syndrome Trisomy 18 Microcephaly Prominent occiput Micrognathia Narrow forehead Cleft lip and palate Low set ears ASD & VSD 22.[slideshare.net] […] with flares.[autoinflammatory-search.org] Other features include brachycephaly, prominent eyes, and low-set ears. There was no extrapyramidal involvement or dyskinesia.[rarediseases.org] Downs Syndrome Trisomy 21  small low set ears and Microcephaly.  incurving of the fifth finger.  a single palmar crease ( simian up slanting Fissures, crease) epicanthal[slideshare.net]

    Missing: Absent Pulp Chambers
  • Kniest Dysplasia

    set ears.[jmg.bmj.com] Roentgenologic findings included short, slightly bowed tubular bones with metaphyseal flare; mild platyspondyly, with vertical clefts of vertebral bodies; small iliac bones[ncbi.nlm.nih.gov] Roentgenograms revealed dumbbell-shaped long bones superficially similar to Kniest dysplasia, but with markedly shortened diaphyses and metaphyseal irregularities.[ncbi.nlm.nih.gov] , irregular epiphyses, coxa vara with late ossification of capital femoral epiphyses PATHOLOGY: ?[orthopaedicsone.com]

    Missing: Absent Pulp Chambers

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