Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II

Brain and Development

Volumn 27, Issue 3 SPEC. ISS., 2005, Pages 237-240

  Ozawa, Hiroshi ^a,b   Takayama, Chikako ^b   Nishida, Akira ^b   Nagai, Toshiro ^c   Nishimura, Gen ^b   Higurashi, Makoto ^d  

^a Department of Pediatrics   (Japan)

^b Tokyo Metropol Hachioji C ^*  (Japan)

^c DOKKYO MEDICAL UNIVERSITY   (Japan)

^d TOKYO KASEI UNIVERSITY   (Japan)

Author keywords

Microcephalic osteodysplastic primordial 'dwarfism' (MOPD) type II; MOPD types I and III; Pachygyria; Seckel syndrome

Indexed keywords

AGYRIA; AUTOSOMAL RECESSIVE DISORDER; BIRTH; BONE MALFORMATION; BONE RADIOGRAPHY; BRAIN; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN DISEASE; BRAIN MALFORMATION; BRAIN RADIOGRAPHY; BRAIN REGION; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DWARFISM; EPIPHYSIS; FACIES; FEMALE; FEMUR MALFORMATION; FRONTAL CORTEX; GROWTH DISORDER; HUMAN; IMAGE ANALYSIS; INTRAUTERINE GROWTH RETARDATION; LATERAL BRAIN VENTRICLE; LONG BONE; METAPHYSIS; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL SHORT STATURE II; MICROCEPHALY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PACHYGYRIA; PHALANX; POSTNATAL GROWTH; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER; SECKEL SYNDROME; SHORT STATURE; TEMPORAL CORTEX; THICKNESS;

EID: 14644396144     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2004.06.007     Document Type: Conference Paper

References (10)

1. F. Majewski, M. Ranke, and A. Schinzel Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism Am J Med Genet 12 1982 21 35
2. F. Majewski, and T. Goecke Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome Am J Med Genet 12 1982 7 21
3. F. Majewski, M. Stoeckenius, and H. Kemperdick Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles-osteodysplastic primordial dwarfism type III Am J Med Genet 12 1982 37 42
4. F. Majewski Caroline Crachami and the delineation of osteoplastic primordial dwarfism type III, an autosomal recessive syndrome Am J Med Genet 44 1992 203 209
5. A. Shanske, D.G. Caride, L. Menasse-Palmer, A. Boganow, and R.W. Marion Central nervous anomalies in Seckel syndrome: report of a new family and review of the literature Am J Med Genet 70 1997 155 158
6. S. Sigaudy, A. Toutain, A. Moncla, C. Fredouille, B. Bourliere, and S. Ayme Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature Am J Med Genet 80 1998 16 24
7. S. Spranger, G. Tariverdian, F.K. Albert, D. Sontheimer, J. Zoller, and M. Weber Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course Eur J Pediatr 155 1996 796 799
8. A. Halder, J. Pahi, A.K. Sharma, V.L. Bhatia, R.V. Phadke, and R. Gujral Osteodysplastic primordial dwarfism type II with normal intellect but delayed central nervous system myelination Am J Med Genet 80 1998 12 15
9. G. Nishimura, T. Hasegawa, M. Fujino, N. Hori, and Y. Tomita Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and Moyamoya disease Am J Med Genet 117A 2003 299 301
10. R. Fukuzawa, S. Sato, M.J. Sullivan, G. Nishimura, T. Hasegawa, and N. Matsuno Autopsy case of microcephalic osteodysplastic primordial 'dwarfism' type II Am J Med Genet 113 2002 93 96