The facial phenotype of the velo-cardio-facial syndrome

Cardiac aspects of DiGeorge syndrome: a report of two cases with molecular analysis

“…Th e common thread among all the organs involved in DiGeorge anomaly is that their development depends on migration of neural crest cells to the region of pharyngeal pouches. Clinical features of this syndrome are: congenital cardiac defects, congenital immunodefi ciency secondary to aplasia or hypoplasia of the thymus, and hypocalcaemia due to small or absent parathyroid glands, cognitive, behavioral, and psychiatric problems and increased susceptibility to infections (3,4). One of the most widely cited article estimated that prevalence rate for DiGeorge syndrome is approximately 1 in 4,000 live births (5,6 A seven days old male newborn was admitted in local hospital in a state of circulatory shock, cardio respiratory decompensated, in severe metabolic acidosis.…”

DiGeorge syndrome in the practice of a pediatric pulmonologist

“…Американский доктор R. Shprintzen, логопед по специальности, в 1978 г. заметил, что дети с проблемами мягкого неба и нарушением развития речи имели врожденный по-рок сердца и схожие черты лица. Таким образом, он описал велокардиофациальный синдром, который в литературе упоминается как синдром Шпринцена [5]. A. Kinouchi (1976), A. Takao (1980) и T. Shimizu (1984) в японской популяции описали этот же син-дром как синдром множественных пороков развития, главными признаками которого являются врожден-ные пороки сердца и лицевые аномалии.…”

Sintomas respiratórios em indivíduos com sinais da Síndrome Velocardiofacial após cirurgia para correção da disfunção velofaríngea

“…Da mesma forma, anomalias auriculares, atraso na fala e distúrbio do comportamento, que foram características encontradas em elevada frequência na presente amostra, também são manifestações comuns já relatadas na literatura para os casos com SVCF (Shprintzen et al 1981, Shprintzen et al 2005, Ferro et al 2008, Shprintzen 2008, Butts 2009e Fomin et al 2010.…”