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Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II.
Pediatr Neurol. 2008 Jun; 38(6):435-8.PN

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.

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Authors+Show Affiliations

Galasso C
Pediatric Neurology Unit, Department of Neuroscience, Tor Vergata University of Rome, Rome, Italy. cinzia.galasso@uniroma2.it
Lo-Castro A
No affiliation info available
Lalli C
No affiliation info available
Cerminara C
No affiliation info available
Curatolo P
No affiliation info available

MeSH

Activities of Daily LivingAdolescentBrainDwarfism, PituitaryElectroencephalographyHumansMagnetic Resonance ImagingMaleMicrocephalyNervous SystemNeuropsychological TestsSocialization

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18486828

Citation

Galasso, Cinzia, et al. "Neurologic Aspects of Microcephalic Osteodysplastic Primordial Dwarfism Type II." Pediatric Neurology, vol. 38, no. 6, 2008, pp. 435-8.
Galasso C, Lo-Castro A, Lalli C, et al. Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. Pediatr Neurol. 2008;38(6):435-8.
Galasso, C., Lo-Castro, A., Lalli, C., Cerminara, C., & Curatolo, P. (2008). Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. Pediatric Neurology, 38(6), 435-8. https://doi.org/10.1016/j.pediatrneurol.2008.02.011
Galasso C, et al. Neurologic Aspects of Microcephalic Osteodysplastic Primordial Dwarfism Type II. Pediatr Neurol. 2008;38(6):435-8. PubMed PMID: 18486828.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. AU - Galasso,Cinzia, AU - Lo-Castro,Adriana, AU - Lalli,Cristina, AU - Cerminara,Caterina, AU - Curatolo,Paolo, PY - 2007/09/17/received PY - 2008/01/03/revised PY - 2008/02/18/accepted PY - 2008/5/20/pubmed PY - 2008/7/19/medline PY - 2008/5/20/entrez SP - 435 EP - 8 JF - Pediatric neurology JO - Pediatr Neurol VL - 38 IS - 6 N2 - 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. SN - 0887-8994 UR - https://www.unboundmedicine.com/medline/citation/18486828/Neurologic_aspects_of_microcephalic_osteodysplastic_primordial_dwarfism_type_II_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0887-8994(08)00118-5 DB - PRIME DP - Unbound Medicine ER -