Abstract
The case is reported of a baby boy with an interstitial deletion of the long arm of chromosome 13 who, in addition to the described associations of Hirschsprung's disease and intestinal atresia, had umbilical cord ulceration resulting in massive intrapartum haemorrhage. This case provides support for the existence of a previously reported association between umbilical cord ulceration and intestinal atresia, and suggests that it is aetiologically heterogeneous.
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- Altshuler G., Arizawa M., Molnar-Nadasdy G. Meconium-induced umbilical cord vascular necrosis and ulceration: a potential link between the placenta and poor pregnancy outcome. Obstet Gynecol. 1992 May;79(5 ):760–766. [PubMed] [Google Scholar]
- Bendon R. W., Tyson R. W., Baldwin V. J., Cashner K. A., Mimouni F., Miodovnik M. Umbilical cord ulceration and intestinal atresia: a new association? Am J Obstet Gynecol. 1991 Feb;164(2):582–586. doi: 10.1016/s0002-9378(11)80026-8. [DOI] [PubMed] [Google Scholar]
- Bottani A., Xie Y. G., Binkert F., Schinzel A. A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus. Hum Genet. 1991 Oct;87(6):748–750. doi: 10.1007/BF00201741. [DOI] [PubMed] [Google Scholar]
- Kiss P., Osztovics M. Association of 13q deletion and Hirschsprung's disease. J Med Genet. 1989 Dec;26(12):793–794. doi: 10.1136/jmg.26.12.793. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lamont M. A., Fitchett M., Dennis N. R. Interstitial deletion of distal 13q associated with Hirschsprung's disease. J Med Genet. 1989 Feb;26(2):100–104. doi: 10.1136/jmg.26.2.100. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Smith B. Pre- and postnatal development of the ganglion cells of the rectum and its surgical implications. J Pediatr Surg. 1968 Jun;3(3):386–391. doi: 10.1016/0022-3468(68)90344-8. [DOI] [PubMed] [Google Scholar]
- Sparkes R. S., Sparkes M. C., Kalina R. E., Pagon R. A., Salk D. J., Disteche C. M. Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3). Hum Genet. 1984;68(3):258–259. doi: 10.1007/BF00418397. [DOI] [PubMed] [Google Scholar]