MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE.
Genet Couns
; 26(4): 381-5, 2015.
Article
em En
| MEDLINE
| ID: mdl-26852507
ABSTRACT
The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. The four main findings in this syndrome may be accompanied by severe psychomotor retardation, blindness, hypotonia, convulsions, and facial dysmorphism. In this paper, we present a female newborn at 39 weeks gestational age born to parents who are first degree cousins. Beside the facial dysmorphism and four main features of the MPPH syndrome, the findings on the physical examination of the patient were, hypertonicity, occipital encephalocele, cleft palate, and multiple polyps in the tongue. The presence of occipital encephalocele, cleft palate, and polyps in the tongue in this patient was not reported previously in the literature.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fissura Palatina
/
Polidactilia
/
Encefalocele
/
Malformações do Desenvolvimento Cortical
/
Hidrocefalia
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article