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]

J Clin Endocrinol Metab 81:2142–2148 CrossRef PubMed CAS Google Scholar Moore CA, Curry CJ, Henthorn PS et al (1999) Mild autosomal dominant hypophosphatasia: in utero presentation in two families. [link.springer.com]

She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula. [ncbi.nlm.nih.gov]

This review discusses the treatment of the spinal deformities associated with the different skeletal dysplasias. [sogacot.org]

Your child’s doctor may work with a team of specialists to develop and deliver a treatment plan. [healthline.com]

Rare Disease Institute Children’s National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases. [childrensnational.org]

These mutations can prevent your child’s bones from growing normally. While skeletal dysplasia runs in families, you can potentially pass the condition to your child even if you don’t have a known family history of it. [healthline.com]

[…] obesity Surgical options include: Inserting draining tubes in the middle ear to prevent hearing loss caused by chronic ear infection Improving breathing by tracheotomy or removing tonsils or adenoids Widening the spinal canal to relieve pressure on the [childrensnational.org]