Growth hormone deficiency, wormian bones, dextrocardia, brachycamptodactyly, and other midline defects.
We report on a 17-month-old boy with Wormian bones, short stature, growth hormone deficiency, developmental delay, brachycamptodactyly, dextrocardia, cryptorchidism, midshaft hypospadias, hypoplastic left kidney, and imperforate anus. This unique combination of abnormalities has not been reported previously.
Stratton
R F
RF
Department of Pediatrics, Wilford Hall United States Air Force Medical Center, Lackland Air Force Base, Texas 78236-5300.
Parker
M W
MW
D000015:Abnormalities, Multiple / Q000235:genetics; D001006:Anus, Imperforate / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002657:Child Development; D003286:Contracture / Q000235:genetics; D003456:Cryptorchidism / Q000235:genetics; D003914:Dextrocardia / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D005385:Fingers / Q000002:abnormalities*; D013006:Growth Hormone / Q000172:deficiency*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D008297:Male
D013006:Growth Hormone