Skull bone defect, alopecia and characteristic face: a new syndrome?

ABSTRACT

The child is a 21/2-year-old female. Parents are first cousins. She has skull bone defect, especially at the frontoparietal region, reduced lacrimation, alopecia and trichorhexis nodosa, and a dysmorphic face [depressed flat nasal bridge, hypertelorism and epicanthal folds]. Mentality and developmental milestones are normal. To the best of our knowledge, this association is a new syndrome and has not been previously reported