Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.
We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance.
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Centro di Genetica Umana, Ospedali Galliera, Genova, Italy.
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D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome