Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.
Am J Med Genet
; 73(4): 419-24, 1997 Dec 31.
Article
in En
| MEDLINE
| ID: mdl-9415469
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 25783-790] 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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spleen
/
Abnormalities, Multiple
/
Bone and Bones
/
Viscera
/
Fetal Diseases
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Am J Med Genet
Year:
1997
Type:
Article
Affiliation country:
United States