Abstract
Albright Hereditary Osteodystrophy is characterized by short stature, obesity, rounded facies, shortened metacarpal and/or phalangeal bones, developmental delay/mental retardation and hypocalcemia in some forms which can be symptomatic.
In 5 patients, a typical facies was identified with round shape largely due to remarkably full cheeks, flat midface, depressed nasal bridge and upturned nose. During infancy the cheeks and face are reminiscent of a “Campbell Soup Kid,” and the round shape and fullness of the cheeks persist through early childhood. By late childhood, the face remains round and full, but the remarkable fullness of the cheeks subsides and the “soup kid” facies becomes less apparent.
Undiagnosed older patients are usually evaluated because of a family member's concern about risks for mental retardation. Older affected individuals are short and obese and have small hands and feet with a round face. Review of photographs during infancy and childhood indicate the characteristic facial appearance and enable confirmation of the diagnosis.
Early diagnosis with prompt intervention or accurate diagnosis in later years is desirable and allows for appropriate genetic evaluation and counseling.
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Shapiro, L., Taska, H. Typical “soup kid” facies of Albright Hereditary Osteodystrophy in early infancy and natural history of the phenotype through old age. Genet Med 1, 63 (1999). https://doi.org/10.1097/00125817-199901000-00089
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DOI: https://doi.org/10.1097/00125817-199901000-00089