Survival and spectrum of anomalies in the meckel syndrome

Wiley - Tập 14 Số 3 - Trang 417-421 - 1983
R. Brian Lowry1,2, Robert H. Hill1,2, Bluma Tischler1,2
1Alberta Children's Hospital Research Centre, Calgary, Alberta
2Department of Pediatrics, University of Calgary, and Departments of Paediatrics and Medical Genetics, University of British Columbia, Vancouver, and Woodlands, New Westminster, British Columbia

Tóm tắt

AbstractWe present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, polydactyly, and cleft palate) are consistent with a diagnosis of the Meckel syndrome. Diagnosis in case 1 was delayed because of two factors: (1) prolonged survival (28 mo), and (2) the absence of severe craniofacial malformations. These two factors may create difficulties in making this diagnosis and result in uncertainty regarding the medical prognosis of the infant and the genetic prognosis for the parents.

Từ khóa


Tài liệu tham khảo

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Thông tin xuất bản

Wiley

Tập 14 Số 3

417-421

Thông tin tác giả