Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly.
We present a stillborn male infant with premaxillary agenesis, bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, bilateral cryptorchidism, and bilateral upper limb postaxial polydactyly.
Department of Child Health, Leicester Royal Infirmary.
I D
ID
Young
D J
DJ
Madders
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome