Presentation
Show allHide all Abnormality of head or neck Midface retrusion Prominent forehead Short neck Small face Abnormality of prenatal development or birth 1-minute APGAR score of 1 5-minute APGAR score of 1 Breech presentation Champagne cork sign Decreased [ncbi.nlm.nih.gov]
Indicaciones El panel de precisión de displasia esquelética de Igenomix está indicado para aquellos pacientes con un diagnóstico clínico sospechado de displasia esquelética que presente las siguientes manifestaciones: Antecedentes familiares de displasia [igenomix.es]
Musculoskeletal
- Osteoporosis
Current Osteoporosis Reports, 15(5), 419-424. doi: 10.1007/s11914-017-0392-x Calder, A. (2020). The changing world of skeletal dysplasia. [igenomix.es]
Face, Head & Neck
- Small Face
Show allHide all Abnormality of head or neck Midface retrusion Prominent forehead Short neck Small face Abnormality of prenatal development or birth 1-minute APGAR score of 1 5-minute APGAR score of 1 Breech presentation Champagne cork sign Decreased [ncbi.nlm.nih.gov]
Urogenital
- Cryptorchidism
Osteodysplastic Primordial Dwarfism Type I, Roifman Syndrome AR na na RPL10 X-linked Mental Retardation, X-linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome, X-linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism [igenomix.es]
Treatment
TransCon CNP, a sustained-release C-type natriuretic peptide prodrug, a potentially safe and efficacious new therapeutic modality for the treatment of comorbidities associated with fibroblast growth factor receptor 3-related skeletal dysplasias. [ncbi.nlm.nih.gov]
Epidemiology
Clinical epidemiology of skeletal dysplasias in South America. Am J Med Genet Part A. 2012;158A:1038–45. [ncbi.nlm.nih.gov]