Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia.

PURPOSE: Microtia describes a spectrum of auricular malformations ranging from mild dysplasia to anotia. A vast majority of microtia patients demonstrate congenital aural atresia (CAA). Isolated microtia has a right ear predominance (58-61%) and is more common in the male sex. Isolated microtia is a multifactorial condition involving genetic and environmental causes. The aim of this study is to describe the phenotype of children with unilateral isolated microtia and CAA, and to search for a common genetic cause trough DNA analysis. METHODS: Phenotyping included a complete clinical examination. Description on the degree of auricular malformation (Weerda classification-Weerda 1988), assessment for hemifacial microsomia and age-appropriate audiometric testing were documented. Computerized tomography of the temporal bone with 3-D rendering provided a histopathological classification (HEAR classification-Declau et al. 1999). Genetic testing was carried out by single nucleotide polymorphism (SNP) microarray. RESULTS: Complete data are available for 44 children (50% was younger than 33 days at presentation; 59.1% boys; 72.7% right ear). Type III microtia was present in 28 patients. Type 2b CAA existed in 32 patients. All patients had a normal hearing at the non-affected side. Genome wide deletion duplication analysis using microarray did not reveal any pathological copy number variant (CNV) that could explain the phenotype. CONCLUSIONS: Type III microtia (peanut-shell type) in combination with a type 2b CAA was the most common phenotype, present in 23 of 44 (52.3%) patients with isolated unilateral microtia. No abnormalities could be found by copy number variant (CNV) analysis. Whole exome sequencing in a larger sample with a similar phenotype may represent a future diagnostic approach.

Ultrasonography of the salivary glands in the evaluation of Sjögren's syndrome. Comparison with sialography.

Ultrasonography (US) was evaluated as noninvasive method to determine salivary gland involvement and compared with sialography in patients with Sjögren's syndrome (SS) and patients with only objective xerostomia and/or xerophthalmia. Patients with complaints of dry eyes and dry mouth but with no objective abnormalities served as control group. Ultrasound revealed a decreased parotid gland reflectivity in most of the patients with SS, compared with only 2 patients in the other group (p = 0.002). Our study suggests that US can be a useful, noninvasive method in the diagnostic work-up of patients with sicca complaints.

Association of isolated hypogonadotropic hypogonadism, pronounced hypodontia and the Wolff-Parkinson-White syndrome.

Diagnosis of idiopathic isolated hypogonadotropic hypogonadism was made in a 22-year-old female patient referred for primary amenorrhoea. It was considered a separate entity from Kallmann's syndrome, because it was not accompanied by anosmia or other specific pleiotropic features. On the other hand, the patient showed severe hypodontia and an intermittent Wolff-Parkinson-White syndrome. To our knowledge, this association has never been reported before. This unusual phenotype points to a nonrandom association. However, no information in the literature is available to consider a new single gene defect or a contiguous gene syndrome.

Ultrasonography and computer tomography of the salivary glands in the evaluation of Sjögren's syndrome. Comparison with parotid sialography.

Ultrasonography (US) and computed tomography (CT) were studied as noninvasive methods to determine salivary gland involvement and compared with parotid sialography in patients with Sjögren's syndrome (SS) and patients with only objective xerostomia and/or xerophthalmia. Patients with complaints of dry eyes and dry mouth but with no objective abnormalities served as controls. CT was not discriminative between the 2 groups. In contrast, US revealed decreased parotid gland echogenicity in most of the patients with SS, compared with only 1 patient in the group with sicca complaints only (p = 0.005). Our study suggests that US can be a useful, noninvasive method in the diagnostic investigation of patients with sicca complaints.