Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II.
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.
Galasso
Cinzia
C
Pediatric Neurology Unit, Department of Neuroscience, Tor Vergata University of Rome, Rome, Italy. cinzia.galasso@uniroma2.it
Lo-Castro
Adriana
A
Lalli
Cristina
C
Cerminara
Caterina
C
Curatolo
Paolo
P
D000203:Activities of Daily Living; D000293:Adolescent; D001921:Brain / Q000473:pathology; D004393:Dwarfism, Pituitary / Q000473:pathology / Q000503:physiopathology*; D004569:Electroencephalography; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000473:pathology / Q000503:physiopathology*; D009420:Nervous System / Q000503:physiopathology*; D009483:Neuropsychological Tests; D012951:Socialization