[Stroboscopy findings: a comparison of flexible CCD-videostroboscopy and rigid stroboscopy]. / Stroboskopie-Befunde: Flexible CCD-Videostroboskopie und klassische Lupenstroboskopie im Vergleich.

OBJECTIVE: After exclusion of morphologic laryngeal alterations by laryngoscopy the prospective study compared stroboscopy findings using a flexible distal charge-coupled device chip-optic (CCD-optic) and a rigid 70° - or 90° -laryngoscope. MATERIAL AND METHODS: 52 patients with functional dysphonia and 47 candidates for speech therapy education were checked with both examination methods. The stroboscopy results were rated randomized and pseudonymized by 3 experts assessed by a study protocol according to the European laryngological society basic protocol 2001. RESULTS: The interrater-reliability was moderate to good. Using the flexible videolaryngoscopy less gaging, less supraglottic contraction during phonation, more often a complete glottal closure and more often a normal mucosal wave movement were found. CONCLUSION: To get an optimal endoscopy result the combination of rigid laryngoscopy and flexible videolaryngoscopy and -stroboscopy will be recommended. Because of the variety of stroboscopic findings for the diagnosis of functional dysphonia additional the case history and functional voice examinations are necessary.

Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.

We present the postnatal diagnosis of a de novo der(18)t(18;22)(p11.32;q11.21)pat, resulting in an unbalanced 45,XX,der (18)t(18;22) karyotype in a girl with conductive hearing loss on the left and ptosis of the right upper eye-lid. Unilateral ptosis was also observed in the patient's 2 years and 8 months younger sister, who grows noticeably faster and appears to be a much quicker learner. After speech therapy the patient was eventually placed in normal school. The haploinsufficient 16.4-Mb region on chromosome 22pter-->q11.21 contains 10 genes as well as many predicted genes, pseudogenes, and retrotransposed sequences with unknown functions. This observation may prove useful for prenatal diagnosis and genetic counselling of chromosome 22q11.1 gains and losses.