AN 11-YEAR-OLD boy with mild mental retardation was referred for evaluation of obesity (Figure 1). He also had abnormalities of his hands and feet. Brachydactyly was noted in both hands and in the third and fourth toes of both feet (Figure 2). He also had syndactyly of the second and third toes. The fourth and fifth metacarpals and metatarsals were short bilaterally. Premature epiphyseal fusion was detected on radiographic examination (Figure 3).
Denouement and Discussion
Albright Hereditary Osteodystrophy
Albright hereditary osteodystrophy (AHO) is characterized by obesity, mental retardation, subcutaneous calcifications, and anomalies of the metacarpophalangeal and metatarsophalangeal bones. It was described by Albright and coworkers in 1942,1 in 3 patients who had hypocalcemia, hyperphosphatemia, and normal renal function but who failed to respond to parathyroid hormone (PH) therapy. The patients also had short stature, obesity, round faces, short necks, and short metacarpal bones. Albright postulated that the
Eronocodelu Y, Böber E, Tunnessen WW. Picture of the Month. Arch Pediatr Adolesc Med. 1997;151(12):1263–1264. doi:10.1001/archpedi.1997.02170490089018
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: