Presentation
She is presently in 3rd grade and is good at studies. Photographs of patient 3 at the age of 9 years. [ncbi.nlm.nih.gov]
Pregnancy management: Delivery of an affected infant has the potential to be complicated by extended breech presentation due to dislocation of the hips and knees. [pubmed.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]
Entire Body System
- Amyloidosis
Tuberous sclerosis TSEN2 Pontocerebellar hypoplasia TSEN54 Pontocerebellar hypoplasia TTC7A Gastrointestinal defects and immunodeficiency syndrome TTC21B Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia TTR Amyloidosis [genda.com.ar]
Treatment
Management: Treatment of manifestations: Cervical spine instability in asymptomatic infants can be successfully managed with posterior arthrodesis. [pubmed.ncbi.nlm.nih.gov]
Surgical treatment of cervical kyphosis in Larsen syndrome: Report of 3 cases and review of the literature. Spine. 2007;32:E39–44. [ncbi.nlm.nih.gov]
Prognosis
Fetal hydrops: diagnosis and prognosis. Archives of disease in childhood, 104(3), 209–210. https://doi.org/10.1136/archdischild-2018-315777 Mardy, A. H., Chetty, S. P., Norton, M. E., & Sparks, T. N. (2019). [igenomix.es]
Etiology
Nonimmune hydrops fetalis: identifying the underlying genetic etiology. [igenomix.es]
Pathophysiology
Non-immune hydrops fetalis: A short review of etiology and pathophysiology. American Journal Of Medical Genetics Part A, 158A(3), 597-605. doi: 10.1002/ajmg.a.34438 Sparks, T. N., Thao, K., Lianoglou, B. R., Boe, N. M., Bruce, K. [igenomix.es]