Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II.
Pediatr Neurol
; 38(6): 435-8, 2008 Jun.
Article
en En
| MEDLINE
| ID: mdl-18486828
ABSTRACT
Microcephalic osteodysplastic primordial dwarfism type II is a specific disorder characterized by severe intrauterine and postnatal growth retardation, acquired microcephaly, cerebrovascular abnormalities, progressive bone dysplasia, and a characteristic face. Whereas the diagnostic features of this syndrome are well-recognized, the neurologic aspects have not been clearly defined. We report on a detailed neurodevelopmental follow-up study of a new case of microcephalic osteodysplastic primordial dwarfism type II, followed from the first years of life to adolescence, and we discuss the neurocognitive features of our patient. We also review the neurologic aspects of this disorder compared with syndromes with overlapping phenotypes, such as microcephalic osteodysplastic primordial dwarfism types I and III and Seckel syndrome.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enanismo Hipofisario
/
Microcefalia
/
Sistema Nervioso
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2008
Tipo del documento:
Article
País de afiliación:
Italia