What Are the Clinical Characteristics of the Most Common Skeletal Dysplasia?

Discussion With more than 200 skeletal dysplasias and multiple variations even for one dysplasia, it can be difficult for the general practitioner to know a lot of specific information about all the skeletal dysplasias. Achondroplasia (ACP) is the most common skeletal dysplasia and specifically short-limbed dwarfism. The incidence is about 1 in 15-40,000 live births. ACP is autosomal dominant with about 80% arising from new mutations with a single nucleotide substitution in the fibroblast growth factor receptor 3 (FGFR3) gene on chromosome 4. This gene regulates the conversion of cartilage to bone, with the problem showing up after 22 weeks gestation. Therefore 2nd trimester fetal ultrasounds often will be normal. Osteogenesis imperfecta (OI) is a connective tissue disorder (most commonly autosomal dominant) which may have skeletal dysplasia as well (some lethal variations). Classic OI has increased bone fragility and increased fractures. Fractures may be with no or minimal trauma and may occur in atypical locations. Severe forms can have fractures occurring in utero. Bony deformations and reduced bony growth can cause a variety of clinical problems including scoliosis and long-bone bowing. Problems which may overlap with ACP include hypermobility, muscle weakness, hearing loss, reduced pulmonary function and complications. Cardiovascular problems are also common with valvular dysfunction and aortic root dilatation. Dental dysplasia and abnormal coloration and bluish sclera m...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news