**3. Imaging**

Imaging studies of middle and inner ear are required for better management of the craniofacial syndromes. They are necessary for a correct diagnosis of anatomical aberrations and for the planning of the surgical intervention.

MRI is the first-choice of imaging technique for craniofacial syndromes, midface masses and brain abnormalities; it is important in showing the anatomy of the brain and the soft tissue structures and in detecting any associated cerebral malformations.


Imaging studies of middle and inner ear are required for better management of the craniofacial syndromes. They are necessary for a correct diagnosis of anatomical aberrations

MRI is the first-choice of imaging technique for craniofacial syndromes, midface masses and brain abnormalities; it is important in showing the anatomy of the brain and the soft tissue

**Gender** M M F F

Unremarkable family history.

consaguineous parents.

Pregnancy was complicated by polhydramnios

Term delivery at 42 weeks of gestational age

Birth Weight 3400 g (10th-50th percentile); Birth length 50 cm (10th-50th ). He had bilateral

(GA)

**Case 1 Case 2 Case 3 Case 4** 

history.

history

Unremarkable family

Unremarkable gravidic

Spontaneous vaginal delivery at 41 weeks of GA. At birth ventilation support was required because of bradycardia and irregular

At birth she weighed 2680 g (3th-10th centile), length was 47 cm (3th-10th), and her head circumference was 33.5 cm (10th-50th). She was pale and had petecchiae at

breathing.

Non-consaguineous parents.

High percentage of in-utero deaths in mother's family history.

Unremarkable gravidic history

Spontaneous vaginal delivery at 41 weeks of

At birth she weighed 2670 g (3th-10th percentile). She showed hyperemic and

GA

**3. Imaging** 

**Family History** 

**Gravidic History** 

**Neonatal Outcome** 

**Physical Examination** 

and for the planning of the surgical intervention.

First son of a non-

consaguineous gypsy couple. The mother was 17-yrs old and father was 18. Un-remarkable family history.

No exposure to known teratogens during pregnancy. Gravidic history

unremarkable until 34 weeks of GA when a spontaneous vaginal delivery occurred

Soon after the delivery, the newborn required ventilation support because of bradycardia, irregular breathing, hypotonia, and hyporeactivity

The weight at birth was 2035 g (10th-25th percentile), length was 46,5 cm (50th -75th ),

was

structures and in detecting any associated cerebral malformations.

Non-


Genetic Hearing Loss Associated with Craniofacial Abnormalities 289

CT (best of all three dimensional CT) is the referral technique for studying syndromes of the first and second branchial arch: the resolution provided by this technique for the fine bony craniofacial structures is unmatched by other modalities. It is useful for example in diagnosing early suture fusion and in detecting any underlying abnormality of the brain. It is also useful when choanal stenosis or pyriform cavity or nasolacrimal ductus abnormalities are present as well as when anomalies of the temporal bone, osseous labyrinth, or internal and external acoustic canal are involved. The choice between techniques depends on the anatomical or functional damage which causes the hearing loss but often only the combined use of MRI and CT is able to give a complete imaging of craniofacial malformations. (Lowe

The knowledge of clinical characteristics of syndromes is still the first and most important step for reaching a correct diagnosis. The clinical appearance leads the clinician to suggest various genetic tests to make a definitive diagnosis. Although many syndromes with craniofacial malformations and hearing loss are known, there are many patients with craniofacial abnormalities and deafness whose disorder cannot be currently classified into any syndrome (Table 2). These patients may have detectable genetic aberrations (e.g. chromosomal abnormalities such as deletions or duplications). The imaging aid to the diagnosis and for intervention in hearing loss associated with these syndromes is certain. The choice between CT o MRI depends on the anatomical/functional damage which causes

Admiraal RJ, Brunner HG, Dijkstra TL, Huygen PL, Cremers CW.Hearing loss in the

Ahmad N, Richards AJ, Murfett HC, Shapiro L, Scott JD, Yates JR, Norton J, Snead MP.

Alkis M. Pierides, Yiannis Athanasiou, Kyproula Demetriou et al. A family with the

Arnaud-López L, Fragoso R, Mantilla-Capacho J, Barros-Núñez P. Crouzon with acanthosis nigricans. Further delineation of the syndrome.Clin Genet. 2007 Nov;72(5):405-10. Baijens LW, De Leenheer EM, Weekamp HH, Cruysberg JR, Mortier GR, Cremers CW.

Barlow-Stewart K and Mona Sale. Centre for Genetics Education . Deafness and Hearing Loss – Genetic Aspects. The Australasian Genetics Resource Book, 2007 Berrettini S. Linee guida per la conduzione dello screening audiologico neonatale nella

Blake K D, Prasad Chitra. CHARGE syndrome. Orphanet Journal of Rare Diseases 2006, 1:34

nonocular Stickler syndrome caused by a COL11A2 mutation. Laryngoscope. 2000

Prevalence of mitral valve prolapse in Stickler syndrome. Am J Med Genet A. 2003

branchio-oto-renal syndrome: clinical and genetic correlations. Nephrol Dial

Stickler syndrome type I and Stapes ankylosis. Int J Pediatr Otorhinolaryngol. 2004

et al., 2000; Johnson et al., 2001; Tokumaru et al., 2006)

**4. Conclusion** 

the hearing.

**5. References** 

Mar;110(3 Pt 1):457-61

Jan 30;116A(3):234-7

Dec;68(12):1573-80

Transplant 2002; 17 (6): 1014-1018

Regione Toscana,.2008 http://www.fimp.org


Table 2. Some clinical cases observed at Neonatology Unity of Santa Chiara University Hospital of Pisa

CT (best of all three dimensional CT) is the referral technique for studying syndromes of the first and second branchial arch: the resolution provided by this technique for the fine bony craniofacial structures is unmatched by other modalities. It is useful for example in diagnosing early suture fusion and in detecting any underlying abnormality of the brain. It is also useful when choanal stenosis or pyriform cavity or nasolacrimal ductus abnormalities are present as well as when anomalies of the temporal bone, osseous labyrinth, or internal and external acoustic canal are involved. The choice between techniques depends on the anatomical or functional damage which causes the hearing loss but often only the combined use of MRI and CT is able to give a complete imaging of craniofacial malformations. (Lowe et al., 2000; Johnson et al., 2001; Tokumaru et al., 2006)
