Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.
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.
Verloes
A
A
Centre for Human Genetics, Liège University, CHU Sart-Tilman, Belgium.
Aymé
S
S
Gambarelli
D
D
Gonzales
M
M
Le Merrer
M
M
Mulliez
N
N
Philip
N
N
Roume
J
J
D000015:Abnormalities, Multiple / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D005313:Fetal Death / Q000209:etiology; D005315:Fetal Diseases / Q000175:diagnosis; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D016142:Holoprosencephaly / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011296:Prenatal Diagnosis; D013577:Syndrome; D013796:Thanatophoric Dysplasia / Q000175:diagnosis; D014314:Trisomy