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127 Possible Causes for Multiple Congenital Anomalies, Pediatric Disorder, Severely Disproportionate Short Stature

  • Cleidocranial Dysplasia

    Tachdjian's Pediatric Orthopaedics. 5th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 40. Horton WA, Hecht JT. Disorders involving transcription factors.[nlm.nih.gov] If RUNX2 testing is not diagnostic and if strong suspicion persists in an individual with features of CCD spectrum disorder who also has multiple congenital anomalies and[ncbi.nlm.nih.gov] The presented case also had severe disproportionate short stature with US/LS of 1.03 and height of 118 cm (SDS of -4.2).[omjournal.org]

  • Russell-Silver Syndrome

    […] endocrine disorders.[books.google.com] congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, malformation syndrome with short stature, polymalformative genetic syndrome with increased[commons.wikimedia.org] Disproportionate short stature is suggestive of skeletal dysplasia.[doi.org]

  • Congenital Hemihypertrophy

    Bilateral adrenal pheochromocytomas have also been described in patients with Beckwith–Wiedemann syndrome (BWS), a pediatric overgrowth disorder, usually presenting with hemihypertrophy[edmcasereports.com] congenital anomalies-hypotonia-seizures syndrome 1, 614080 PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 MEN1 Multiple endocrine neoplasia 1, 131100[gsdseq.ir] short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity.[mendelian.co]

  • Schwartz-Lelek Syndrome

    Craniotubular bone disorders. Pediatric Radiology , Vol. 24, Issue. 6, p. 392.[cambridge.org] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[flinders.edu.au]

  • Osteogenesis Imperfecta

    Neurology and Musculoskeletal disorders and Home care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.[ncbi.nlm.nih.gov] Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991).[doi.org] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org]

  • Mesomelic Dysplasia Type Langer

    Explore the impact of today’s advances and challenges, including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric[books.google.com] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com] From Wikidata Jump to navigation Jump to search Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening[wikidata.org]

  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.com] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com] We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk.[ncbi.nlm.nih.gov]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    […] you need to effectively diagnose and treat pediatric musculoskeletal disorders.[books.google.de] congenital anomalies-hypotonia-seizures syndrome Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to[se-atlas.de] Physical characteristics include moderate short-stature ( dwarfism ); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong[monarchinitiative.org]

  • Ellis-Van Creveld Syndrome

    Genetics: This is an autosomal recessive disorder.[wohproject.org] On examination, the child had multiple congenital anomalies and cervical lymphadenopathy.[ncbi.nlm.nih.gov] The syndrome has several typical features: chondrodysplasia resulting in disproportionate short stature, bilateral postaxial polydactyly of the hands, ectodermal dysplasia[jbsr.be]

  • Dyggve-Melchior-Clausen Syndrome

    Center for Human Genetics and is Director of the Rare Brain Disorders Program (Clinic and Laboratory).[books.google.com] […] dysplasia Human diseases in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD24 Syndromes with skeletal anomalies[genome.jp] Here, we report two cases with DMC: one with disproportionate short stature, developmental delay, and severe ID with a novel frameshift mutation (c.1028_1056del29) leading[ncbi.nlm.nih.gov]