Question
Diagnose the Developmental disorder shown in Photograph
A. Osteogenesis imperfecta
B. Fibrous dysplasia
C. Achondroplasia
D. Paget’s disease
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Correct Answer » C Explanation |
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Achondroplasia
Achondroplasia is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 80% of cases (associated with advanced paternal age) or it may be inherited as an autosomal dominant genetic disorder.
People with achondroplasia have short stature, with an average adult height of 131 centimeters (52 inches) for males and 123 centimeters (48 inches) for females. Achondroplastic adults are known to be as short as 62.8 cm (24.7 in). If both parents of a child have achondroplasia, and both parents pass on the mutant gene, then it is very unlikely that the homozygous child will live past a few months of its life