Extreme intrauterine growth retardation, hydrocephalus and aged facial appearance: a previously unrecognized autosomal recessive disorder?
We present a boy with severe intrauterine growth retardation, relative macrocephaly, an aged appearance to the face, hydrocephaly and distinctive skeletal anomalies. Autosomal recessive inheritance is likely in view of the parental consanguinity.
Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
R M
RM
Winter
D
D
Shortland
A L
AL
Collins
C M
CM
Hall
I K
IK
Temple
D000375:Aging / Q000235:genetics*; D019066:Facies; D005317:Fetal Growth Retardation / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008297:Male