objective pfeiffer syndrome is as rare as apert syndrome in the western population. this condition is very rare in the asian population. at the best of our knowledge this is the first genetically proven case report from iran. the authors report with a review of literature, the case of a infant with pfeiffer syndrome, manifested by lacunar skull, ventriculomegaly, bicoronal craniosynostosis,fron...

A 5-year-old boy and his father with Pfeiffer syndrome are described. They had acrocephaly, hypertelorism, antimongoloid slant of the palpebral fissures, protrusion of the eyes, large and broad nose, small mandible, irregularly placed teeth, additional upper canine, high-arched palate, partial syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular gr...

objective rubinstein-taybi syndrome is a rare genetic disorder with characteristic featuresincluding downward slanting palpebral fissures, broad thumbs and halluces,and mental retardation. systemic features may involve cardiac, auditory,ophthalmic, endocrine, nervous, renal and respiratory systems. this syndromeis sporadic in nature and has been linked to microdeletion at 16p 13.3 encodingcreb-...