1. Twin fetuses with abnormalities that overlap with three midline malformation complexes.
- Author
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Hingorani SR, Pagon RA, Shepard TH, and Kapur RP
- Subjects
- Abnormalities, Multiple diagnosis, Abnormalities, Multiple pathology, Brain Neoplasms embryology, Cleft Palate, Diagnosis, Differential, Female, Fetal Diseases pathology, Hamartoma embryology, Heart Defects, Congenital embryology, Humans, Hypothalamus, Limb Deformities, Congenital, Occipital Bone abnormalities, Orofaciodigital Syndromes diagnosis, Phenotype, Prenatal Diagnosis, Syndrome, Twins, Monozygotic, Abnormalities, Multiple classification, Diseases in Twins, Fetus abnormalities, Orofaciodigital Syndromes pathology
- Abstract
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.
- Published
- 1991
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