Three sibs with microcephaly, congenital heart disease, lung segmentation defects and unilateral absent kidney: a new recessive multiple congenital anomaly (MCA) syndrome?
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.
Ellis
I H
IH
Kennedy Galton Genetics Centre, Northwick Park Hospital, Harrow, Middlesex, UK.
Yale
C
C
Thomas
R
R
Garrett
C
C
Winter
R M
RM
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