Fowler-like syndrome with extreme oligohydramnios, growth restriction and without muscular hypoplasia.
We report the seventh family of Fowler like syndrome (proliferative vasculopathy and hydrocephaly-hydrencephaly syndrome) and first case from Indian subcontinent. A 35 weeks extremely growth retarded male baby showed enlarged ventricles, thinned out cerebral cortex, diffuse intra-cerebral as well as peri-ventricular calcification, cerebral and corneal vasculopathy, unilateral micro-ophthalmia along with corneal opacity and depressed pulsatile anterior fontanel. This case was different from others concerning association with extreme oligohydramnios (in contrast to polyhydramnios), extreme growth restriction (in contrast to normal growth) and absence of gross muscle hypoplasia. No causative factors like TORCH infection, chromosomal abnormality or positive family history was noted in this case.
Halder
Ashutosh
A
Department of Medical Genetics, Sanjay Postgraduate Institute of Medical Sciences, Lucknow, India. ashutoshhalder@yahoo.com
Panigrahi
Inusha
I
Pal
Lily
L
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002552:Cerebral Ventricles / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis*; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis*; D007231:Infant, Newborn; D008297:Male; D016104:Oligohydramnios / Q000175:diagnosis*; D011247:Pregnancy; D013577:Syndrome