title: Achondroplastic and hypochondroplastic dwarfism.
abstract: To ensure proper management, prognosis and genetic counseling among patients with chondrodystrophy a specific diagnosis is critical. Achondroplasia is the most common intrinsic bone dysplasia which results in short-limbed dwarfism. Because of its frequency, it is the most completely documented and understood of these conditions. Emphasis has been given to the various characteristics which allow an exact diagnosis to be made. Hypochondroplasia can be misdiagnosed unless attention is paid to the many differences which distinguish it as a separated disorder. Some ten other conditions must be considered in the differential diagnosis of these conditions.
mesh_terms: D000130:Achondroplasia / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology* / Q000628:therapy; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000473:pathology*; D005817:Genetic Counseling; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology; D007223:Infant; D007866:Leg / Q000473:pathology; D008297:Male; D010292:Paresthesia / Q000209:etiology; D011859:Radiography; D013118:Spinal Cord Diseases / Q000209:etiology; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology