Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.
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.
Ming
J E
JE
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia and the University of Pennsylvania, 19104, USA.
McDonald-McGinn
D M
DM
Markowitz
R I
RI
Ruchelli
E
E
Zackai
E H
EH
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities* / Q000196:embryology; D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D006330:Heart Defects, Congenital; D006801:Humans; D008168:Lung / Q000002:abnormalities; D007690:Polycystic Kidney Diseases / Q000235:genetics; D011247:Pregnancy; D013154:Spleen / Q000002:abnormalities* / Q000196:embryology; D013577:Syndrome; D014781:Viscera / Q000002:abnormalities*