Infantile McCune–Albright syndrome

Davies, Justin H., Barton, John S., Gregory, John Welbourn ORCID: https://orcid.org/0000-0001-5189-3812 and Mills, Caroline 2001. Infantile McCune–Albright syndrome. Pediatric Dermatology 18 (6) , pp. 504-506. 10.1046/j.1525-1470.2001.1862003.x

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Abstract

McCune–Albright syndrome is a rare disorder caused by an activating mutation of the α 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

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Wiley
ISSN:	0736-8046
Last Modified:	28 Oct 2022 08:57
URI:	https://orca.cardiff.ac.uk/id/eprint/72735

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