Article
Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?
Genetic counseling (Geneva, Switzerland) - 1 Jan 2005
Okten A, Mungan L, Orhan F, Cakir M
Abstract excerpt
We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyl...
Topics
- Brain Diseases
- Cerebellum
- Face
- Foot Deformities, Congenital
- Genetic Variation
- Hamartoma
- Hand Deformities, Congenital
- Humans
- Hypothalamus
- Infant, Newborn
- Magnetic Resonance Imaging
- Male
- Orofaciodigital Syndromes
- Polydactyly
- Tomography, X-Ray Computed