RT Journal Article
SR Electronic
T1 Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 339
OP 340
DO 10.1136/jmg.27.5.339
VO 27
IS 5
A1 M E Porteous
A1 J Burn
YR 1990
UL http://jmg.bmj.com/content/27/5/339.abstract
AB The proband, the first child of unrelated parents, was noted in infancy to have microcephaly, developmental delay, dysmorphic facies, hypotonia, a small penis with cryptorchidism, and a fixed flexion deformity of his left index finger. His maternal uncle is severely retarded and has similar dysmorphic facies.