Holoprosencephaly and postaxial polydactyly with normal chromosomes. Another observation of a new malformation syndrome; a case report.
A newborn boy is described with semilobar holoprosencephaly, cebocephaly with single nostril, median pseudocleft of upper lip, postaxial polydactyly, hypogenitalism, Hischsprung's disease and survival till the age of 13 weeks. Chromosomal analysis on lymphocytes was normal. Up to now, three other patients with this malformation complex have been described. Together with the present patient, they are apparently the first examples of a new malformation syndrome.
Ramaekers
P R
PR
Obstetrics Department, St. Annakliniek, Beringen, Belgium.
Legius
E
E
Verloes
A
A
Gillerot
Y
Y
Vandenberghe
K
K
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000175:diagnosis; D001921:Brain / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities; D005317:Fetal Growth Retardation; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014054:Tomography