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92 Possible Causes for Anterior Fontanelle Open in Adults, Cone-Shaped Epiphyses of Phalanges

  • Cleidocranial Dysplasia

    epiphyses of the phalanges of the hand Cone-shaped end part of finger bones 0010230 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 Delayed eruption[rarediseases.info.nih.gov] Accessory epiphyses, especially involving second metacarpal and cone-shaped epiphyses may be radiologically evident.[scielo.org.za] 0002688 Absent paranasal sinuses Missing paranasal sinuses 0002689 Aplastic clavicle Absent collarbone 0006660 Autosomal dominant inheritance 0000006 Cervical ribs 0000891 Cone-shaped[rarediseases.info.nih.gov]

  • Seckel Syndrome

    The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges[ncbi.nlm.nih.gov] Additional skeletal features may include: ivory epiphyses 3 cone-shaped epiphyses in the proximal phalanges 3. absent thumb History and etymology Named after Helmut Paul George[radiopaedia.org] Additional skeletal features may include: ivory epiphyses 3 cone-shaped epiphyses in the proximal phalanges 3 . absent thumb History and etymology Named after Helmut Paul[radiopaedia.org]

    Missing: Anterior Fontanelle Open in Adults
  • Metaphyseal Acroscyphodysplasia

    Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses.[malacards.org] […] acroscyphodysplasia Disease definition Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped[orpha.net] These patients showed cone-shaped epiphyses involving the knee with metaphyseal cupping of hand bones, cone-shaped epiphyses of phalanges, slender phalanges of normal length[ispub.com]

    Missing: Anterior Fontanelle Open in Adults
  • Pyknodysostosis

    Abstract Pyknodysostosis is a rare form of sclerosing bone dysplasia with autosomal recessive inheritance. Affected members of two families were assessed as follows: three patients underwent densitometry measurements and bone scans; four patients underwent magnetic resonance imaging (MRI) and an immunological[…][ncbi.nlm.nih.gov]

    Missing: Cone-Shaped Epiphyses of Phalanges
  • Trichorhinophalangeal Syndrome

    TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and[ncbi.nlm.nih.gov] […] bulbous nose, upper lip deformity, protruding ears, mandibular hypoplasia, and cone-shaped epiphyses of the phalanges.[ncbi.nlm.nih.gov] The radiographic findings include cone-shaped epiphyses of the middle phalanges with shortened metacarpals. Genetic findings include deletion of chromosome band 8q24.12.[ncbi.nlm.nih.gov]

    Missing: Anterior Fontanelle Open in Adults
  • Acrodysostosis

    He had characteristic facies with an upturned nose and cone-shaped epiphyses of most phalanges.[jstage.jst.go.jp] These disorders are associated with phalangeal cone shaped epiphyses of the hands.[ncbi.nlm.nih.gov] epiphyses of the phalanges of the hand Cone-shaped end part of finger bones 0010230 Congenital onset Symptoms present at birth 0003577 Delayed speech and language development[rarediseases.info.nih.gov]

    Missing: Anterior Fontanelle Open in Adults
  • Coxa Vara

    Accessory epiphyses, especially involving second metacarpal and cone-shaped epiphyses may be radiologically evident.[scielo.org.za] In the hands, short, tapered distal phalanges are frequent.[scielo.org.za]

    Missing: Anterior Fontanelle Open in Adults
  • Distal Symphalangism

    epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones.[ncbi.nlm.nih.gov] epiphyses of middle phalanges of fingers , and absence of scaphoid, trapezium, trapezoid, and pisiform bones .[wikigenes.org] Cone-shaped epiphyses of middle phalanges All middle phalanges short/deformed Cone-shaped epiphyses of distal phalanges All distal phalanges short/deformed A diagnosis of[head-face-med.biomedcentral.com]

    Missing: Anterior Fontanelle Open in Adults
  • Growth Hormone Deficiency

    […] and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature.[ncbi.nlm.nih.gov] Tricho-rhino-phalangeal syndrome type I (TRPSI) is a rare autosomal dominant hereditary disorder characterized by sparse hair, bulbous nose, long philtrum, thin upper lip,[ncbi.nlm.nih.gov]

    Missing: Anterior Fontanelle Open in Adults
  • Fitzsimmons-McLachlan-Gilbert Syndrome

    epiphyses, and an abnormal metaphyseal-phalangeal pattern profile.[en.wikipedia.org] epiphyses, abnormal metaphyseal – phalangeal pattern profile, sternal anomaly ( pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. [1] Pathophysiology[en.wikipedia.org] […] syndrome is an extremely rare genetic disease characterized by a slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped[en.wikipedia.org]

    Missing: Anterior Fontanelle Open in Adults

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