title: Three sibs with microcephaly, congenital heart disease, lung segmentation defects and unilateral absent kidney: a new recessive multiple congenital anomaly (MCA) syndrome?
abstract: We present three sibs with similar dysmorphic features, including brain, heart and lung malformations that have not been reported previously. Cytogenetic studies have failed to demonstrate a chromosomal abnormality. Although parental consanguinity was not present, we suggest that this may constitute a new recessive syndrome.
authors.affiliation: Kennedy Galton Genetics Centre, Northwick Park Hospital, Harrow, Middlesex, UK.
authors.forename: I H
authors.initials: IH
authors.lastname: Ellis
authors.forename: C
authors.initials: C
authors.lastname: Yale
authors.forename: R
authors.initials: R
authors.lastname: Thomas
authors.forename: C
authors.initials: C
authors.lastname: Garrett
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008168:Lung / Q000002:abnormalities*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009679:Nuclear Family; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome