Presentation
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]
Entire Body System
- Anemia
Syndrome, Septo-Optic Dysplasia Spectrum AD,AR 100% 26 of 26 HS6ST1 Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism AD 99.97% 8 of 8 HSPA9 Autosomal Dominant Sideroblastic Anemia [igenomix.es]
Eyes
- Prolapse
Cancer, Esophageal Cancer, Familial Congenital Mirror Movements, Familial Horizontal Gaze Palsy With Progressive Scoliosis And Impaired Intellectual Development, Kallmann Syndrome AD,AR 94% 39 of 39 DCHS1 Cerebrofacioarticular Syndrome, Mitral Valve Prolapse [igenomix.es]
Musculoskeletal
- Brachydactyly
Type A1, A2, C, D, Aplasia-Complex Brachydactyly Syndrome AD,AR 100% 33 of 34 CANT1 Desbuquois Dysplasia, Desbuquois Syndrome, Multiple Epiphyseal Dysplasia AR 99.98% 29 of 30 CCDC141 Hypogonadotropic Hypogonadism Without Anosmia, Kallmann Syndrome AR [igenomix.es]
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
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. Horm Res Paediatr. 2015;83: 361–364. Hafiz A, Mufeed A, Ismael M, Alam M. An unusual case of KBG syndrome with unique oral findings. [reseau-maladies-rares.fr]