Sibs with the polyasplenia developmental field defect.
We report on two brothers each with absent spleen, multiple cardiac defects, and varying degrees of situs inversus. One brother also had omphalocele; the other also had annular pancreas. These findings are consistent with a diagnosis of polyasplenia, a complex developmental field defect affecting visceral and cardiac situs, with associated spleen and heart defects. We also discuss familial cases from a developmental field perspective.
Toriello
H V
HV
Blodgett Memorial Medical Center, Genetics/Birth Defects/Neurology Clinic, Grand Rapids, MI 49506.
Kokx
N
N
Higgins
J V
JV
Hofman
R
R
Waterman
D F
DF
D000015:Abnormalities, Multiple / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013154:Spleen / Q000002:abnormalities*