Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

Osteopenia

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.

合計: 1

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PMID (PMCID)
15326631	MALE	Infant, Newborn
	Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.
	Patel MS, Taylor GP, Bharya S, Al-Sanna'a N, Adatia I, Chitayat D, Suzanne Lewis ME, Human DG. Am J Med Genet A. 2004;129A(3):294-9.
	We report on two children with AOS plus additional features including intrauterine growth retardation (IUGR), cutis marmorata telangiectatica congenita (CMTC), pulmonary hypertension (PH), intracranial densities shown in one case to be sites of active bleeding and osteopenia.