Severe sensory hearing loss in del(6q)-syndrome.
6q-syndrome is a rare disorder characterised by a combination of anatomic anomalies, and mental and motor retardation due to a monosomy or trisomy 6q. So far only 12 suspected cases of monosomies 6q have been reported. Hearing loss does not seem to be characteristic for this syndrome. We present the case of a girl with partial monosomy 6q. A bilateral severe sensory hearing loss was confirmed by subjective and objective audiometry at the age of 12 years. The girl was successfully equipped with hearing aids. Other features of the syndrome, i.e. mental retardation, microcephaly, asymmetric face, broad nasal bridge, hypertelorism, epicanthus, strabism, high arched palate, ventricular septum defect and seizures were seen. Additionally, a tetraplegy and diaphragmal hernia had been diagnosed. The girl was equipped with a gastrostomy tube because of nutritional disorders. In the literature, the possibility of hearing disorders in monosomy 6q is rarely mentioned, although limited verbal speech skills have been reported. A syndromic character of hearing disorders in 6q-syndrome cannot be excluded. We advise detailed and early audiological testing of children with monosomy 6q.
Department of Phoniatrics and Pedaudiology, Erlangen, University Hospital, Bohlenplatz 21, D-91054 Erlangen, Germany.
Maria
M
Schuster
Jörg
J
Lohscheller
Peter
P
Kummer
Ulrich
U
Eysholdt
Frank
F
Rosanowski
D000015:Abnormalities, Multiple / Q000235:genetics; D001299:Audiometry; D002648:Child; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D009006:Monosomy