Achondroplasia-hypochondroplasia complex.
We report on a 14-year-old girl with the achondroplasia-hypochondroplasia complex. This patient has been reported previously [McKusick et al, 1973], and we offer an update on her condition. The patient has clinical features different from both achondroplasia and hypochondroplasia and is mentally retarded. Radiological changes, which have occurred over 14 years, are included.
D000130:Achondroplasia / Q000150:complications* / Q000000981:diagnostic imaging; D000293:Adolescent; D005121:Extremities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging; D010388:Pelvis / Q000000981:diagnostic imaging; D013902:Radiography, Thoracic; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging