Twin fetuses with abnormalities that overlap with three midline malformation complexes.
Twin fetuses aborted at an estimated gestational age of 145 days were concordant for oral, facial, skeletal, and central nervous system malformations. The twins were discordant for other anomalies including cardiac defects, polydactyly, and malrotated short bowel. The combination of malformations observed overlaps with that of the oral-facial-digital syndrome, hydrolethalus syndrome, and Pallister-Hall syndrome. The problem of phenotypic overlap between these syndromes is discussed.
Hingorani
S R
SR
Department of Pathology, University of Washington, School of Medicine, Seattle 98195.
Pagon
R A
RA
Shepard
T H
TH
Kapur
R P
RP
D000015:Abnormalities, Multiple / Q000145:classification* / Q000175:diagnosis / Q000473:pathology; D001932:Brain Neoplasms / Q000196:embryology; D002972:Cleft Palate; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D005260:Female; D005315:Fetal Diseases / Q000473:pathology; D005333:Fetus / Q000002:abnormalities*; D006222:Hamartoma / Q000196:embryology; D006330:Heart Defects, Congenital / Q000196:embryology; D006801:Humans; D007031:Hypothalamus; D017880:Limb Deformities, Congenital; D009777:Occipital Bone / Q000002:abnormalities; D009958:Orofaciodigital Syndromes / Q000175:diagnosis / Q000473:pathology*; D010641:Phenotype; D011296:Prenatal Diagnosis; D013577:Syndrome; D014430:Twins, Monozygotic