Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. Osteochondrodysplasias can result in marked functional limitation and even mortality. Osteochondrodysplasias subtypes can overlap in clinical aspects. Therefore, plain radiography is absolutely necessary to establish an accurate diagnosis. Magnetic resonance imaging can provide further diagnostic insights and guide treatment strategies especially in cases of spinal involvement. Early diagnosis and timely management of skeletal dysplasia are important to combat functional deterioration
The osteochondrodysplasias encompass a heterogeneous group of disorders characterized by intrinsic abnormalities of cartilage and bone. 806 these disorders include abnormalities in the size or shape of bones in the limbs, spine, or skull, often with abnormalities seen on radiographic evaluation. More than 100 osteochondrodysplasias have been identified based on physical characteristics and radiographic characteristics
Diagnosis of osteochondrodysplasias can be difficult, with clinical and radiologic evaluation central to the diagnosis. The family history is critical, although many cases are caused by de novo mutations, and this is generally the case in autosomal-dominant achondrodysplasia and hypochondrodysplasia. Measurement of body proportions should include arm span, sitting height, upper and lower body segments, and head circumference. Radiologic evaluation should be used to determine whether involvement is of the long bones, skull, or vertebrae and whether abnormalities are primarily at the epiphyses, metaphyses, or diaphyses. The osteochondrodysplasias most commonly encountered in endocrine practice are discussed in the following paragraphs.
Achondrodysplasia is the most common of the osteochondrodysplasias, with a frequency of 1 in 26,000 individuals. Characteristic abnormalities of the skeleton include megalocephaly, low nasal bridge, lumbar lordosis, short trident hand, and rhizomelia (shortness of the proximal legs and arms) with skin redundancy. Radiologic findings include small, cuboid-shaped vertebral bodies with short pedicles and progressive narrowing of the lumbar interpedicular distance.
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