MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE


Demir N. , Peker E., Gulsen I. , Kaba S., Tuncer O.

GENETIC COUNSELING, cilt.26, ss.381-385, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 26 Konu: 4
  • Basım Tarihi: 2015
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayısı: ss.381-385

Özet

Megalencephaly, polymicrogyria, polydactyly and hydrocephalus (MPPH) syndrome: a new case with occipital encephalocele and cleft palate: 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.