Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly (Articolo in rivista) (literal)

Anno

• 2008-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1177/0883073808315623 (literal)

Alternative label

• T. Pisano; M. Meloni; C. Cianchetti; M. Falchi; A. Nucaro; D. Pruna. (2008)
  Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly
  in Journal of child neurology
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• T. Pisano; M. Meloni; C. Cianchetti; M. Falchi; A. Nucaro; D. Pruna. (literal)

Pagina inizio

• 916 (literal)

Pagina fine

• 918 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 23 (literal)

Rivista

• Journal of child neurology (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 8 (literal)

Note

• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• A. Nucaro: Neurogenetics and Neuropharmacology Institute_ CNR- Cagliari, Italy. T. Pisano; M. Meloni; C. Cianchetti; M. Falchi; D. Pruna: Division of child Neurology and Psychiatry, Azienda Ospedaliero- Universitaria, Cagliari, Italy. (literal)

Titolo

• Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly (literal)

Abstract

• Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is characterized by megalencephaly, perisylvian polymicrogyria, postaxial polydactyly, and hydrocephalus. Seven cases have been reported. This report presents a new sporadic patient with megalencephaly, polymicrogyria, and hydrocephalus syndrome, a girl born to healthy, nonconsanguineous parents at 38 weeks. Macrocephaly (+4 standard deviation) was present at birth. She had syndactyly instead of the postaxial polydactyly reported in the other patients. Neurologic examination showed severe diffuse hypotonia and profound developmental delay. Magnetic resonance imaging revealed enlarged lateral and third ventricles, with cavum septi pellucidi et vergae, bilateral abnormal white matter intensity, and diffuse polymicrogyria, most prominent in both the frontal and perisylvian regions. A visual evoked potential study showed increased latencies, probably caused by white matter abnormalities. At 16 months, she has never had seizures and shows profound psychomotor retardation. Results of metabolic and genetic studies were normal. (literal)

Prodotto di

• Studio con Array-CGH di soggetti con ritardo mentale idiopatico. (ME.P05.009.003) (Modulo)
• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)

Autore CNR

• ANNA LISA NUCARO (Persona)

Incoming links:

Prodotto

• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)
• Studio con Array-CGH di soggetti con ritardo mentale idiopatico. (ME.P05.009.003) (Modulo)

Autore CNR di

• ANNA LISA NUCARO (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Journal of child neurology (Rivista)