Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1992 Jul;29(7):500–502.

Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities.

C G Woods 1, M Crouchman 1, S M Huson 1
PMCID: PMC1016030  PMID: 1640433

Abstract

This paper describes three children of a Pakistani first cousin marriage with a distinctive, non-progressive disorder characterised by variable phalangeal anomalies, microcephaly, pre- and postnatal growth retardation, poor vision, dystonic movements, a characteristic face, and severe mental retardation. This combination of features seems to be distinct and to represent a new autosomal recessive syndrome.

Full text

PDF
500

Images in this article

500Image
on p.500
500Image
on p.500
501Image
on p.501
501Image
on p.501
501Image
on p.501
502Image
on p.502

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Filippi G. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome? Am J Med Genet. 1985 Dec;22(4):821–824. doi: 10.1002/ajmg.1320220416. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES