Twin fetuses with abnormalities that overlap with three midline malformation complexes.

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.

• Authors: S R Hingorani, R A Pagon, T H Shepard, R P Kapur
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 41 Issue 2 Pg. 230-5 (Nov 01 1991) ISSN: 0148-7299 [Print] United States
• PMID: 1785640 (Publication Type: Case Reports, Comparative Study, Journal Article)

Topics

• Abnormalities, Multiple (classification, diagnosis, pathology)
• Brain Neoplasms (embryology)
• Cleft Palate
• Diagnosis, Differential
• Diseases in Twins
• Female
• Fetal Diseases (pathology)
• Fetus (abnormalities)
• Hamartoma (embryology)
• Heart Defects, Congenital (embryology)
• Humans
• Hypothalamus
• Limb Deformities, Congenital
• Occipital Bone (abnormalities)
• Orofaciodigital Syndromes (diagnosis, pathology)
• Phenotype
• Prenatal Diagnosis
• Syndrome
• Twins, Monozygotic