- The longitudinal course of two cases with cretinism diagnosed after adolescenceTsunenori Hirayama
Department of Pediatrics, National Fukushima Hospital, Sukagawa shi, Japan
J Nippon Med Sch 70:175-8. 2003..They experienced improved bone maturation, anemia, hypophsphatemia and hypercholesterolemia, but their intellectual and mental disabilities were not improved...
- A case of severe mental and developmental retardation associated with 14q terminal monosomy/5q terminal trisomyTsunenori Hirayama
Department of Pediatrics, Tokyo Metropolitan Higashiyamato Medical Center for the Severely Disabled, Higashiyamato, Tokyo, Japan
J Nippon Med Sch 77:40-4. 2010....
- A case of adversive seizures induced by hyperventilationYasuhiko Kawakami
Department of Pediatrics, Nippon Medical School Second Hospital, Kawasaki, Kanagawa, Japan
J Nippon Med Sch 70:351-4. 2003..We report the present case because, although its epileptogenesis is unknown, the patient is a rare case not only clinically but also electrophysiologically...
- Congenital bilateral severe microphthalmia with mental retardation and cerebral palsy: chromosome aberration, 46, XY, t (2;6)(q31;q24)Tsunenori Hirayama
Department of Pediatrics, National Hospital Organization Fukushima Hospital, Fukushima, Japan
J Nippon Med Sch 72:242-4. 2005..To our knowledge, however, this is the first report of nonsyndromic microphthalmia or anophthalmia with chromosome 2q31 or 6q24 aberration. We consider that the putative gene may be located on the brake points of chromosome 2 and 6...