This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

David Branski, MD; Rena Gale, MD; Eva Gross-Kieselstein, MD; Abraham Abrahamov, MD

Am J Dis Child. 1977;131(12):1379-1381.

Abstract
• Three siblings suffering from recurrent vomiting, hypotonia, hyperpnea, dehydration, and ketoacidosis were diagnosed as having ketotic hyperglycinemia secondary to propionic acidemia. They also had leukopenia and thrombocytopenia, and two of them had anorectal malformations, one an imperforate anus with rectoperineal fistula, and the other an ectopic anus. The occurrence of propionic acidemia and anorectal anomalies in three siblings out of eight children in a consanguineous marriage suggests an autosomal recessive genetic inheritance.

(Am J Dis Child 131:1379-1381, 1977)

Author Affiliations
From the Department of Pediatrics B and Neonatology, Bikur Cholim General Hospital, Jerusalem, Israel. Dr Branski is now with Children's Hospital, Buffalo, NY.

Footnotes
Reprint requests to Department of Pediatrics, Division of Gastroenterology, Children's Hospital, 219 Bryant St, Buffalo, NY 14222 (Dr Branski).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?