Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance.
In 1985, Frydman et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia. The syndrome was termed as oculo-palato-cerebral dwarfism. The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. The clinical features were milder than the original cases, and there was no consanguinity. We report a third patient with oculo-palato-cerebral syndrome, supporting autosomal recessive inheritance, and a detailed comparison with the previous cases. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.
Alanay
Yasemin
Y
Clinical Genetics Section, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. yalanay@hacettepe.edu.tr
Boduroglu
Koray
K
Sönmez
Bariş
B
Orhan
Mehmet
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D040582:Inheritance Patterns; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree