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: a disproportionately short stature, short limbs, abnormal endochondral ossification, Gross motor development frequently is delayed, Upper airway obstruction, small chest wall, pectus excavatum, and neurogenic effects from brain stem compression reduce the vital capacity, Abnormal development of the base of the skull results in a foramen magnum that is smaller than in average individuals, Stenosis of the spinal canal and intervertebral foramen leads to symptoms such as low Back pain, leg pain, dysesthesia, paresthesia, paraparesis, incontinence, and neurogenic claudication, lower extremity radiculopathy from nerve root compression or cauda equina syndrome, Joint laxity may be present in children, The upper extremity involvement is rhizomelic, with the proximal segments more severely affected than the distal segments, Lower extremity involvement is rhizomelic, with hip flexion contractures, ligamentous laxity and external rotation of the extremity, and genu recurvatum before walking age, Spinal deformities, Macrocephaly, Before walking, the child has a thoracolumbar kyphosis and lordosis in the interscapular thoracic region, Joint laxity, otitis media

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Is achondroplastic dwarfism a gene malfunction or mutation?

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