HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.

Abstract
We report on a fetus with tetramelic campomelia, polysplenia, multicystic dysplastic kidneys, and cervical lymphocele. This condition is similar to the autosomal recessive condition described by Cumming et al. [1986: Am J Med Genet 25:783-790] and is different from campomelic syndrome. In addition, our case had anomalies not previously described in this condition, including abnormal lung lobation with bilateral left bronchial morphology, dextrocardia, total anomalous pulmonary venous return, a left superior vena cava, and a right aortic arch. The pancreas was short, with absence of the body and tail. These anomalies are similar to those found in the polyasplenia spectrum. We suggest that the syndrome reported by Cumming et al. may be expanded to include polysplenia with heterotaxia and that Cumming syndrome may be considered another autosomal recessive condition associated with a laterality defect.
AuthorsJ E Ming, D M McDonald-McGinn, R I Markowitz, E Ruchelli, E H Zackai
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 73 Issue 4 Pg. 419-24 (Dec 31 1997) ISSN: 0148-7299 [Print] United States
PMID9415469 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S., Review)
Topics
  • Abnormalities, Multiple (genetics)
  • Bone and Bones (abnormalities, embryology)
  • Female
  • Fetal Diseases (genetics)
  • Heart Defects, Congenital
  • Humans
  • Lung (abnormalities)
  • Polycystic Kidney Diseases (genetics)
  • Pregnancy
  • Spleen (abnormalities, embryology)
  • Syndrome
  • Viscera (abnormalities)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: