Abstract
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.
Original language | English |
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Pages (from-to) | 41-47 |
Number of pages | 7 |
Journal | Clinical Dysmorphology |
Volume | 5 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1996 |
Keywords
- Autosomal recessive inheritance
- Epilepsy
- Mental retardation syndrome
- Multiple congenital anomalies
- Skeletal dysplasias
ASJC Scopus subject areas
- Genetics(clinical)
- Pediatrics, Perinatology, and Child Health
- Anatomy