title: New syndrome: brain malformation, growth retardation, hypokinesia and polyhydramnios in two brothers.
abstract: We report two brothers who were born after pregnancies characterized by polyhydramnios and hypokinesia. Both had brain malformation (absence of corpus callosum in one; arhinencephaly in the other), telecanthus and narrow palpebral fissures. This family and several similar phenotypes reported only in affected brothers could reflect X-linked inheritance.
authors.affiliation: Department of Newborn Medicine, Brigham and Women's Hospital, Boston, MA, USA.
authors.forename: L B
authors.initials: LB
authors.lastname: Holmes
authors.forename: W C
authors.initials: WC
authors.lastname: Schoene
authors.forename: B R
authors.initials: BR
authors.lastname: Benacerraf
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002658:Developmental Disabilities / Q000150:complications* / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D018476:Hypokinesia / Q000151:congenital* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D006831:Polyhydramnios / Q000150:complications*; D011247:Pregnancy; D013577:Syndrome; D014960:X Chromosome