| Literature DB >> 2352265 |
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.Entities:
Mesh:
Year: 1990 PMID: 2352265 PMCID: PMC1017089 DOI: 10.1136/jmg.27.5.339
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318