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

作者：Demir N^*; Peker E; Gulsen I; Kaba S; Tuncer O

来源：Genetic Counseling, 2015, 26(4): 381-385.

• MPPH Syndrome
• Occipital encephalocele
• Cleft palate
• Newborn

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.

• 出版日期2015