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Other types of
Dwarfism includes the following
Thanatophoric dysplasia: It causes
severe chest wall deformities and respiratory failure in neonates,
resulting in death.
Chondrodysplasia punctata: It causes
variable extraskeletal manifestations, radiographic epiphyseal
stippling in infancy from calcifications.
Diastrophic dysplasia: It causes
severe dwarfism with rigid hitchhiker thumb and fixed talipes
equinovarum.
Mesomelic dysplasia: It causes
predominantly, shortening of the forearms and shanks but will have
normal facies and spine.
Multiple epiphyseal dysplasia: It
causes mild dwarfism will have normal spine and facies, sometimes
stubby digits, hip dysplasia and very heterogeneous.
Pseudoachondroplasia: Will have
Normal facies and possess various degrees of dwarfism and
kyphoscoliosis and heterogeneous.
Spondyloepiphyseal dysplasia:
Predominantly, kyphoscoliosis; sometimes myopia and a flat facies;
heterogeneous.
Diagnosis and Treatment
Achondroplasia is diagnosed by characteristic clinical and
radiographic findings in most affected individuals. In small babies
who are too young to diagnose will undergo a DNA-based testing to
detect a mutation in the FGFR3 gene. And also molecular genetic
testing will be very helpful in the diagnosis of newborns.
Guidelines for treating the child with
average stature includes the following
• Monitoring height, weight, and head circumference.
• Try to avoid obesity in early childhood.
• Regular CT of the foramen magnum region for the evaluation of severe
hypotonia or signs of spinal cord compression.
• Obtaining history of possible sleep apnea.
• Assessment of high lumbar gibbus if truncal weakness is present.
• Management of frequent middle ear infections.
• Careful monitoring of social adjustment. |
