Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
- 1 May 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (5) , 339-340
- https://doi.org/10.1136/jmg.27.5.339
Abstract
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.Keywords
This publication has 1 reference indexed in Scilit:
- International workshop on the fragile X and X‐linked mental retardationAmerican Journal of Medical Genetics, 1984