Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II

American Journal of Medical Genetics

Volumn 113, Issue 1, 2002, Pages 93-96

  Fukuzawa, Ryuji ^a,b   Sato, Seiji ^a   Sullivan, Michael J ^b,c   Nishimura, Gen ^d   Hasegawa, Tomonobu ^a   Matsuo, Nobutake ^a  

^a KEIO UNIVERSITY   (Japan)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c UNIVERSITY OF OTAGO   (New Zealand)

^d Nasu Chuou Hospital   (Japan)

Author keywords

Endochondral bone formation; Microcephalic osteodysplastic primordial dwarfism type II; Seckel syndrome

Indexed keywords

RECOMBINANT GROWTH HORMONE;

ARTICLE; AUTOPSY; BONE DYSPLASIA; BONE RADIOGRAPHY; CARTILAGE CELL; CASE REPORT; CHONDROGENESIS; CLINICAL FEATURE; COXA VARA; DWARFISM; ENCHONDRAL OSSIFICATION; FEMALE; GROWTH DISORDER; GROWTH PLATE; HISTOLOGY; HUMAN; HUMAN TISSUE; INFANT; INTRAUTERINE GROWTH RETARDATION; JAPAN; MICROCEPHALY; MICROMELIA; PATHOGENICITY; PRIORITY JOURNAL; SECKEL SYNDROME; TRABECULAR BONE;

ABNORMALITIES, MULTIPLE; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; AUTOPSY; BIRTH WEIGHT; CESAREAN SECTION; DWARFISM; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MICROCEPHALY;

EID: 0037110999     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10716     Document Type: Article

References (10)

1. Capovilla G, Lorenzetti ME, Montagnini A, Borgatti R, Piccinelli P, Giordano L, Accorsi P, Caudana R. 2001. Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature. J Child Neurol 16:382-386.
2. Haan EA, Furness ME, Knowles S, Morris LL, Scott G, Svigos JM, Vigneswaren R. 1989. Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am J Med Genet 33:224-227.
3. Majewski F, Goecke T. 1982. Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet 12:7-21.
4. Majewski F, Ranke M, Schinzel A. 1982a. Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet 12:23-35.
5. Majewski F, Stoeckenius M, Kemperdick H. 1982b. 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 12:37-42.
6. McKusick VA, Mahloudji M, Abbott MH, Lindenberg R, Kepas D. 1967. Seckel's bird-headed dwarfism. N Engl J Med 277:279-286.
7. Meinecke P, Schaefer E, Wiedemann HR. 1991. Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. Am J Med Genet 39:232-236.
8. Rodriguez JI, Regadera JF, Morales C, Perera A. 1982. Nuevos hallazgos en el sindrome de Seckel: su consideracion como una condrodisplasia. An Esp Pediatr 16:406-415.
9. Shanske A, Caride DG, Menasse-Palmer L, Bogdanow A, Marion RW. 1997. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet 70:155-158.
10. Taybi H, Linder D. 1967. Congenital familial dwarfism with cephaloskeletal dysplasia. Radiology 89:275-281.