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Infantile McCune-Albright syndrome

Infantile McCune-Albright syndrome
Infantile McCune-Albright syndrome
McCune-Albright syndrome is a rare disorder caused by an activating mutation of the alpha subunit of the Gs protein and is characterized by multiple hormonal abnormalities, fibrous dysplasia of bone, and cutaneous pigmentation. We report a 10-week-old infant with McCune-Albright syndrome. He presented with failure to thrive, cardiorespiratory distress, and pigmented macules on his face, trunk, and limbs. Following the clinical diagnosis of McCune-Albright syndrome, he was subsequently shown to have hypercortisolism and hyperthyroidism.
hyperthyroidism, humans, pathology, face, bone, mutation, complications, pigmentation, child, abnormalities, diagnosis, alpha, congenital, infant, protein, cafe-au-lait spots, cushing syndrome, syndrome, health, fibrous dysplasia, male, polyostotic, report
0736-8046
504-506
Davies, J.H.
9f18fcad-f488-4c72-ac23-c154995443a9
Barton, J.S.
529b230b-e62d-4b17-9ee8-b3e94d404c27
Gregory, J.W.
f14bbe24-2378-4a70-991d-4bbf8fa66ac5
Mills, C.
d2e77e89-d2df-455b-ae64-5bf4a8e626cf
Davies, J.H.
9f18fcad-f488-4c72-ac23-c154995443a9
Barton, J.S.
529b230b-e62d-4b17-9ee8-b3e94d404c27
Gregory, J.W.
f14bbe24-2378-4a70-991d-4bbf8fa66ac5
Mills, C.
d2e77e89-d2df-455b-ae64-5bf4a8e626cf

Davies, J.H., Barton, J.S., Gregory, J.W. and Mills, C. (2001) Infantile McCune-Albright syndrome. Pediatric Dermatology, 18 (6), 504-506. (doi:10.1046/j.1525-1470.2001.1862003.x).

Record type: Article

Abstract

McCune-Albright syndrome is a rare disorder caused by an activating mutation of the alpha subunit of the Gs protein and is characterized by multiple hormonal abnormalities, fibrous dysplasia of bone, and cutaneous pigmentation. We report a 10-week-old infant with McCune-Albright syndrome. He presented with failure to thrive, cardiorespiratory distress, and pigmented macules on his face, trunk, and limbs. Following the clinical diagnosis of McCune-Albright syndrome, he was subsequently shown to have hypercortisolism and hyperthyroidism.

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More information

Published date: 12 February 2001
Keywords: hyperthyroidism, humans, pathology, face, bone, mutation, complications, pigmentation, child, abnormalities, diagnosis, alpha, congenital, infant, protein, cafe-au-lait spots, cushing syndrome, syndrome, health, fibrous dysplasia, male, polyostotic, report

Identifiers

Local EPrints ID: 59649
URI: http://eprints.soton.ac.uk/id/eprint/59649
ISSN: 0736-8046
PURE UUID: 3d45a349-015c-4c77-819e-0626aba92895

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 08 Jan 2022 13:05

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Contributors

Author: J.H. Davies
Author: J.S. Barton
Author: J.W. Gregory
Author: C. Mills

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