ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (12)
McCune-Albright syndrome in Infant/Neonate
Print
Other Resources UpToDate PubMed

McCune-Albright syndrome in Infant/Neonate

Print Images (12)
Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

McCune-Albright syndrome, also known as Albright syndrome, consists of polyostotic fibrous dysplasia, café-au-lait spots, and gonadotropin independent precocious puberty. Affected individuals may have other endocrine abnormalities. Fibrous dysplasia can involve any bone but usually affects the long bones, pelvis, and scapula. Sclerosis of the base of the skull is also common. Fibrous dysplasia ranges from asymptomatic and detectable only by bone scan, to markedly disfiguring with development of pathologic fractures or nerve impingement.

The abnormality in McCune-Albright syndrome is a sporadic post-zygotic mutation in the gene coding for the alpha subunit of the stimulatory G protein resulting in mosaicism of the mutation in affected tissues.

For more information, see OMIM.

Codes

ICD10CM:
Q78.1 – Polyostotic fibrous dysplasia

SNOMEDCT:
36517007 – McCune-Albright syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated: 04/09/2019
Copyright © 2019 VisualDx®. All rights reserved.
McCune-Albright syndrome in Infant/Neonate
Print 12 Images
View all Images (12)
(with subscription)
McCune-Albright syndrome : Buttocks, Hypercalciuria, Lytic bone lesions, Primarily truncal, Hyperpigmented patches
Clinical image of McCune-Albright syndrome
Copyright © 2019 VisualDx®. All rights reserved.