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
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
12 February 2001
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
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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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
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Date deposited: 04 Sep 2008
Last modified: 15 Mar 2024 11:17
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Author:
J.S. Barton
Author:
J.W. Gregory
Author:
C. Mills
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