| Phenotype | Microcephaly (head circumference < 2nd %tile for age; > 2nd %tile for height); growth retardation (WT 23rd %tile, HT < 5th %tile) developmental delay; dysmorphic features (flat nasal bridge, epicanthal folds, strabismus, short philtrum, thin upper lip); café-au-lait spots (2); 2nd toes overlap 3rd bilaterally; small labia majora; extra creases on right hand; wider thumbs and halluces; previous reports by other specialists of advanced bone age and secondary craniosynostosis. |