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11  Articles
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The author of this paper uses autoethnography to explore some of her experiences being born with the congenital malformation syndactyly, calling the process her deformography. She engages in this process for two reasons: a) to move syndactyly out of the m... see more

Long QT syndrome (LQTS) may be a cause of foetal bradyarrhythmia and an important cause of death in children with arrhythmia. We present the case of a patient of Kadazan Iban descent with LQTS. He was detected prenatally to have foetal 2:1 atrioventricula... see more

Sindroma Apert adalah suatu gangguan genetik yang ditandai dengan penggabungan tulang yang terlalu dini (kraniosinostosis). Penggabungan dini tersebut menghambat pertumbuhan normal tulang dan mempengaruhi pertumbuhan bentuk kepala dan wajah. Penggabungan ... see more

Jesper Brandt Andersen & Niels W. Bruun: Tetralogy of Steno-Fallot and Bartholin-Patau syndrome. A heart malformation and a malformation syndrome first described by Danish anatomists in the seventeenth century.The heart malformation tetralogy of Steno-Fal... see more

 

 

AbstractOculodentodigital dysplasia (ODDD), also known as oculodento-osseous dysplasia, is an extremely rare autosomal dominant disorder with high penetrance, intra- and interfamilial phenotypic variability, and advanced paternal age in sporadic cases. Th... see more

RÉSUMÉLe syndrome de Fraser est un syndrome génétique malformatif rare dont les principales manifestations sont : une cryptophtalmie, des syndactylies, des anomalies laryngées, trachéales et des malformations urogénitales. Pour poser le diagnostic, il fau... see more

RÉSUMÉLe syndrome de Bardet–Biedl (SBD) est un syndrome polymalformatif rare, de transmission autosomique récessive. Il associe dystrophie rétinienne, obésité, hypogonadisme et un retard mental souvent modéré. Nous rapportons trois cas colligés à l’Instit... see more

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