Bird-Headed Dwarfism

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An autosomal recessive [MIM 210600] condition characterised by growth and mental retardation, a beak-like nose, micrognathism, microcephaly, prominent maxilla and eyes, hypertelorism, strabismus, anti-mongoloid slant of palpebral fissures, premature balding, short trunk, variable musculoskeletal changes—e.g., kyphoscoliosis, joint dislocations, clubbing of fingers, and genitourinary defects (e.g., cryptorchidism)

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