MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL
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.
More Related Videos
06:04Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE
Published on: August 16, 2024
10:23Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
Related Concept Videos
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Inborn Errors of Metabolism
Prosopagnosia
Teratogenicity
Language and Cognition
