**4. Acknowledgements**

I thank Dr. Thomas B Friedman for helpful comments and critical overview of the manuscript. Supported by Fogarty International Center and National Institute on Deafness and other Communication Disorders, National Institutes of Health, USA, (R01TW007608).

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**13** 

*Italy* 

**Genetic Hearing Loss** 

*University Hospital of Pisa, Pisa* 

**Associated with Craniofacial Abnormalities** 

It is estimated that hereditary hearing loss accounts for 60% of deafness in the developed countries. About 30% of hereditary hearing impairment is syndromic which involves other presenting abnormalities along with deafness. There are more than 400 syndromes which include various degrees of hearing impairment with different phenotypes. (Barlow Stewart et al., 2007; Berrettini et al., 2008)*.* Abnormalities of different systems or suggestive clinical findings have been associated with syndromic hearing loss. These include craniofacial malformations, dental abnormalities, ocular abnormalities, renal defects, cardiac abnormalities, endocrine dysfunction, neurologic dysfunction, skeletal abnormalities, integumentary abnormalities, metabolic disease, chromosomal

Treacher Collins, Goldenhar and Charge syndrome, Pierre Robin sequence, Stickler, Apert, Crouzon, Pfeiffer and velocardiofacial syndrome are just few conditions in which hearing loss is associated with craniofacial abnormalities. Most of these conditions are related to first and second branchial arches development abnormalities. The first and second branchial arches contribute to the development of skeletal (e.g. mandibula, maxilla, middle ear ossicules), muscular (facial muscles) and nervous (e.g. facial nerve) structures of the face. That explains why, due to the abnormal development of first and second branchial arches, midface malformations are usually the typical findings in these patients. (Gorlin et al., 1995;

We describe some of these disorders underlining the main characteristic impairments and the observed hearing loss. We also report our observations on some clinical cases seen at

Neonatology Unity of Santa Chiara University Hospital of Pisa (Table 2).

*2Section of Neonatal Endocrinology and Dysmorphology, Mother and Child Department, Italy 3Division of ENT, Department of Neuroscience, Italy* 

*4Cytogenetics and Molecular Genetics Unit, Mother and Child Department, Italy* 

**1. Introduction** 

abnormalities.

Johnson et al., 2011)

*1Neonatology Unit and NICU, Italy* 

\* S. Lunardi1,2, F. Forli3, A. Michelucci4, A. Liumbruno3, F. Baldinotti4, A. Fogli4, V. Bertini4, A. Valetto4, B. Toschi4,

P. Simi4, A. Boldrini1, S. Berrettini3 and P. Ghirri1,2

