Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.
Publication/Presentation Date
12-31-1997
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.
Volume
73
Issue
4
First Page
419
Last Page
424
ISSN
0148-7299
Published In/Presented At
Ming, J. E., McDonald-McGinn, D. M., Markowitz, R. I., Ruchelli, E., & Zackai, E. H. (1997). Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. American journal of medical genetics, 73(4), 419–424. https://doi.org/10.1002/(sici)1096-8628(19971231)73:4<419::aid-ajmg10>3.0.co;2-u
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
9415469
Department(s)
Department of Pediatrics
Document Type
Article