RT Journal Article
SR Electronic
T1 Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 297
OP 303
DO 10.1136/jmg.28.5.297
VO 28
IS 5
A1 Verloes, A
A1 Aymé, S
A1 Gambarelli, D
A1 Gonzales, M
A1 Le Merrer, M
A1 Mulliez, N
A1 Philip, N
A1 Roume, J
YR 1991
UL http://jmg.bmj.com/content/28/5/297.abstract
AB A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.