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15 Possible Causes for Craniosynostosis, Mild Rib Sclerosis, Short Extremities

  • Achondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Despite sharing a common genetic basis, craniosynostosis has rarely been described in cases of confirmed achondroplasia.[ncbi.nlm.nih.gov] […] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor[medlink.com]

  • Osteogenesis Imperfecta

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Congenital brittle bones with craniosynostosis and ocular proptosis (Cole-Carpenter syndrome) Two boys and one girl have been described with this particular form.[web.archive.org] Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov]

  • Pseudoachondroplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] FGFR-Related Craniosynostosis Syndromes. 1998 Oct 20 [Updated 2011 Jun 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews [Internet].[genedx.com] He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile.[ncbi.nlm.nih.gov]

  • Schmid Metaphyseal Chondrodysplasia

    Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees.[genecards.org] […] short stature Moderate short stature 0008848 30%-79% of people have these symptoms Abnormality of bone mineral density 0004348 Brachydactyly Short fingers or toes 0001156 Craniosynostosis[rarediseases.info.nih.gov] Bowing of the extremities, mild short stature and a waddling gait are evident at a young age.[ctgt.net]

  • Skeletal Dysplasia

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] , rhizomelia Most have normal life span FGFR2 Bent bone dysplasia; Saethre-Chotzen syndrome Majority – AD (some are sporadic) Bent bone dysplasia –craniosynostosis, facial[arupconsult.com] 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]

  • Thoracolaryngopelvic Dysplasia

    There is mild platyspondyly and generalised shortening of ribs and long bones.[bmcpediatr.biomedcentral.com] Nigricans AD Jackson-Weiss syndrome AD Saethre-Chotzen syndrome AD Craniosynostosis Muenke Type AD Craniosynostosis Boston Type AD Craniosynostosis Adelaide Type AD Craniosynostosis[gamuts.isradiology.org] The major distinctive clinical features are long, narrow thorax, short extremities, short hand, progressive renal disease and hepatic fibrosis (4,5).[czytelniamedyczna.pl]

  • Autosomal Dominant Mental Retardation Type 21

    There are marked thickening and sclerosis of the skull and whole facial bones. The ribs are also thickened and sclerotic.[iofbonehealth.org] The FGFR mutations in Pfeiffer syndrome and nonsyndromic craniosynostosis were reviewed in detail.[genome.jp] Human disorders attributable to a single dominant gene trait conspicuous signs achondroplasia dwarfism, large head, short extremities, short fingers and toes osteogenesis[britannica.com]

  • Congenital Cortical Hyperostoses

    rib sclerosis, mild clavicular sclerosis, mild vertebral body sclerosis, metacarpal and metatarsal diaphyseal endosteal sclerosis.[iofbonehealth.org] Type Spondyloepiphyseal Dysplasia with Atlantoaxial Instability spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis[rgd.mcw.edu] […] of top and bottom extremities (fig.), and also a clavicle and a mandible.[bigmed.info]

  • Osteosclerosis

    Pyknodysostosis is, on the other hand, characterized by a short stature, short extremities and an enlarged skull with misplaced teeth.[symptoma.com] 6011000124106 MAPPRIORITY 1 6011000124106 MAPRULE OTHERWISE TRUE 6011000124106 MAPTARGET R62.50 6011000124106 MAPRULE IFA 722117000 Osteosclerosis, developmental delay, craniosynostosis[bioportal.bioontology.org] rib sclerosis, mild clavicular sclerosis, mild vertebral body sclerosis, metacarpal and metatarsal diaphyseal endosteal sclerosis.[iofbonehealth.org]

  • Chondrodystrophy

    Spine radiograph lateral view (b) demonstrating mild platyspondyly and expansion of anterolateral parts of the ribs with “club-shaped” configuration (arrows).[doi.org] Dyskinesia 2013.6.27 発作性運動誘発性ジスキネジア 2011.6.26 Familial Transthyretin Amyloidosis 2012.1.26 家族性トランスサイレチンアミロイドーシス 2011.4.4 Fanconi anemia 2018.3.8 ファンコニ貧血 2016.7.21 FGFR-Related Craniosynostosis[grj.umin.jp] Type 1 (short limb dysplasia), the more common of the two, is characterised by a long trunk and extremely shortened extremities.[en.wikipedia.org]

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