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Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.


ABSTRACT:

Introduction

Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds.

Case presentation

We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome.

Conclusion

SUBMITTER: Ballini A 

PROVIDER: S-EPMC3039604 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature