Orofaciodigital syndrome type I in a patient with severe CNS defects.

Abstract

A female patient with orofaciodigital syndrome type I associated with pachygyria, heterotopic gray matter, interhemispheric cyst, agenesis of the corpus callosum, and a Dandy-Walker anomaly is reported. Because some of these defects have been described in patients with different types of orofaciodigital syndromes, we recommend caution when using neuroradiologic criteria to separate these syndromes. Given the severe spectrum of brain abnormalities displayed by our patient, and considering their similarity with the brain defects formerly described in other X-linked dominant conditions with male lethality localized to Xp22, the use of DNA probes from Xp22 is advised in identifying the gene(s) causing orofaciodigital syndrome type I.

• Authors: M J Leão, M L Ribeiro-Silva
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 13 Issue 3 Pg. 247-51 (Oct 1995) ISSN: 0887-8994 [Print] United States
• PMID: 8554663 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• DNA Probes

Topics

• Brain (abnormalities, pathology)
• Child
• DNA Probes
• Female
• Humans
• Male
• Orofaciodigital Syndromes (classification, genetics, pathology)