We describe two sibs, one male and one female, presenting a new autosomal recessive multiple congenital anomalies/mental retardation syndrome of 'coarse face', microcephaly, moderate to severe mental retardation, epilepsy and skeletal abnormalities.
- Autosomal recessive inheritance
- Mental retardation syndrome
- Multiple congenital anomalies
- Skeletal dysplasias
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health