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Case Reports
. 1990 May;27(5):339-40.
doi: 10.1136/jmg.27.5.339.

Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia

M E Porteous  1 , J Burn
Affiliations
Case Reports

Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia

M E Porteous et al. J Med Genet. 1990 May.

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.

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References

    1. Am J Med Genet. 1984 Jan;17(1):5-94 - PubMed

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