Osteodysplastic primordial dwarfism type II with normal intellect but delayed central nervous system myelination

American Journal of Medical Genetics

Volumn 80, Issue 1, 1998, Pages 12-15

  Halder, Ashutosh ^a   Pahi, J ^a   Sharma, Anita K ^a   Bhatia, V L ^a   Phadke, R V ^a   Gujral, R ^a   Agarwal, S S ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Delayed central nervous system myelination; Normal intellect; Osteodysplastic primordial dwarfism type II

Indexed keywords

ARTICLE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; DWARFISM; FACE DEFORMITY; GENETIC LINKAGE; GROWTH RETARDATION; HUMAN; MALE; PRIORITY JOURNAL; SCHOOL CHILD;

BRAIN; CHILD; DWARFISM; HUMANS; INTELLIGENCE; MAGNETIC RESONANCE IMAGING; MALE; MYELIN SHEATH; OSTEOCHONDRODYSPLASIAS;

EID: 0031667099     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981102)80:1<12::AID-AJMG3>3.0.CO;2-C     Document Type: Article

References (10)

1. Fitch N, Prinsky L, Lachance RC (1970): A form of bird headed dwarfism with features of premature senility. Am J Dis Child 120:260-264.
2. Majewski F, Goecke T (1982): Studies of microcephalic primordial dwarfism. I. Approach to a delineation of Seckel syndrome. Am J Med Genet 12:7-21.
3. Majewski F, Stoeckenius M, Kemperdick H (1982a): 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.
4. Majewski F, Ranke M, Schinzel A (1982b): Studies of microcephalic primordial dwarfism. II. The osteodysplastic type II of primordial dwarfism. Am J Med Genet 12:23-35.
5. Meinecke P, Passarge E (1991): Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med Genet 28:795-800.
6. Saul RA, Wilson WG (1990): A new skeletal dysplasia in two unrelated boys. Am J Med Genet 35:388-393.
7. Seckel HPG (1960): Bird headed dwarfism. Springfield, IL: CC Thomas.
8. Taybi H, Linder D (1967): Congenital familial dwarfism with cephaloskeletal dysplasia. Radiology 89:275-281.
9. Toriello HV, Horton WA, Oostendorp A, Waterman DF, Higgins JV (1986): An apparently new syndrome of microcephalic primordial dwarfism and cataract. Am J Med Genet 25:1-8.
10. Winter RM, Wigglesworth J, Harding BN (1985): Osteodysplastic primordial dwarfism: Report of a further patient with manifestation similar to those seen in patients with types I and III. Am J Med Genet 21:569-574.