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.
Young
I D
ID
Department of Child Health, Leicester Royal Infirmary.
Madders
D J
DJ
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