Genetics of Atrial Septal Defect

作者: Andrés Sánchez Cascos

DOI: 10.1136/ADC.47.254.581

关键词: DermatoglyphicsOstium Primum DefectTurner syndromeTrisomyAnatomyMedicineDown syndromePolydactylyTracheoesophageal fistulaFistula

摘要: Of 109 cases of atrial septal defect, with an isolated defect (92 cases) showed a female preponderance (sex ratio 0·64), but there was higher risk to the sibs male patients, suggesting multifactorial mechanism. Dermatoglyphs large number whorls on fingers. In 17 were multiple malformations, such as Holt-Oram syndrome (hypoplastic and triphalangic thumb, ostium secundum defect), polydactyly plus primum tracheo-oesophageal fistula.

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