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42 Possible Causes for J-Shaped Sella Turcica

  • Pseudo-Hurler Polydystrophy

    Symptoms of Pseudo-Hurler polydystrophy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Coarse facial features Craniosynostosis J-shaped[familydiagnosis.com] sella turcica 0002680 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw[rarediseases.info.nih.gov] sella turcica Mandibular prognathia Abnormality of limbs Carpal bone hypoplasia Irregular carpal bones Soft tissue swelling of interphalangeal joints Split hand ... ...[familydiagnosis.com]

  • Mucopolysaccharidosis

    BACKGROUND: Mucopolysaccharide (MPS) diseases are a heterogeneous group of inherited, metabolic disorders characterized by accumulation of partially degraded glycosaminoglycans (GAG) in multiple organ systems. Due to accumulation in the airway, patients often present with multilevel airway obstruction and[…][ncbi.nlm.nih.gov]

  • Mulibrey Nanism Syndrome

    sella turcica, and fibrous dysplasia of bones.[jamanetwork.com] More than 90 percent of affected individuals have a J-shaped sella turcica, which is a depression in the sphenoid bone at the base of the skull.[rarediseases.org] […] nanism, an autosomal recessive disorder of unknown pathogenesis, include severe growth failure, yellow pigmentation of the retina, evidence of pericardial constriction, J-shaped[jamanetwork.com]

  • Mucopolysaccharidosis 1H

    Dystosis multiplex is characterized by an enlarged skull, thickened calvarium, premature closure of lamboid and sagittal sutures, shallow orbits, enlarged J-shaped sella turcica[themedicalbiochemistrypage.org]

  • Mucopolysaccharidosis 7

    sella turcica in the eyes: corneal opacity and iris coloboma in the nose: anteverted nostrils and a depressed nostril bridge in the mouth and oral areas: prominent alveolar[en.wikipedia.org] The symptoms include: in the head, neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped[en.wikipedia.org]

  • Anauxetic Dysplasia

    sella turcica ; Platyspondyly ; Rhizomelia ; Short finger ; Short neck ; Short toe ; Small epiphyses Associated Genes RMRP (Withdrawn symbols: CHH, NME1, RMRPR, RRP2 ) Mouse[mousephenotype.org] sella turcica 0002680 Platyspondyly Flattened vertebrae 0000926 Rhizomelia Disproportionately short upper portion of limb 0008905 Short finger Stubby finger Stubby fingers[rarediseases.info.nih.gov] […] compression ; Cervical subluxation ; Delayed ossification of carpal bones ; Flared metaphysis ; Hypertelorism ; Hypodontia ; Hypoplastic ilia ; Intellectual disability ; J-shaped[mousephenotype.org]

  • Mucopolysaccharidosis 6

    sella turcica (a saddle-shaped skull structure into which sits the bottom of the pituitary gland), and abnormal spacing of the teeth with dentigerous cysts.[themedicalbiochemistrypage.org] […] constellation of skeletal abnormalities that are characterized by an enlarged skull, thickened calvarium, premature closure of lamboid and sagittal sutures, shallow orbits, enlarged J-shaped[themedicalbiochemistrypage.org]

  • Pituitary Dwarfism

    More than 90 percent of affected individuals have a J-shaped sella turcica, which is a depression in the sphenoid bone at the base of the skull.[rarediseases.org]

  • Mucopolysaccharidosis 2

    sella turcica, as well as developmental milestone history were all suggestive of Hunter’s syndrome.[amhsr.org] […] et al.) features, large head, small stubby fingers, mild mental retardation, radiological correlates such as breaking of vertebrae, proximal tapering of metacarpal bones, j-shaped[amhsr.org]

  • Fucosidosis

    sella turcica (a saddle-shaped skull structure into which sits the bottom of the pituitary gland), and abnormal spacing of the teeth with dentigerous cysts.[themedicalbiochemistrypage.org] […] constellation of skeletal abnormalities characterized by an enlarged skull, thickened calvarium, premature closure of lamboid and sagittal sutures, shallow orbits, enlarged J-shaped[themedicalbiochemistrypage.org]

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