Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Legg-Calvé-Perthes disease

A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.

Thyroiditis

Inflammation of the thyroid gland.

Total: 1

(per page)

PMID (PMCID)
22991195	MIXED_SAMPLE	Adult
	Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.
	Ruggieri M, Milone P, Pavone P, Falsaperla R, Polizzi A, Caltabiano R, Fichera M, Gabriele AL, Distefano A, De Pasquale R, Salpietro V, Micali G, Pavone L. Am J Med Genet A. 2012;158A(11):2870-80.
	Both patients had facial asymmetry and the young man had facial dysmorphism, seizures with EEG anomalies, hemiplegia, insulin-dependent diabetes mellitus (IDDM), autoimmune thyroiditis, a large hepatic cavernous vascular malformation, and left Legg-Calve-Perthes disease (LCPD) [LCPD-like presentation].