New syndrome: brain malformation, growth retardation, hypokinesia and polyhydramnios in two brothers.
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.
Holmes
L B
LB
Department of Newborn Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Schoene
W C
WC
Benacerraf
B R
BR
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