Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2013
Discovery of a large deletion of KAL1 in 2 deaf brothers.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Marlin Sandrine, Chantot-Bastaraud Sandra, David Albert, Loundon Natalie, Jonard Laurence, Portnoï Marie-France, Bonnet Crystel, Louha Malek, Gherbi Souad, Garabedian Eréa Noël, Couderc Remy, Denoyelle Françoise
Аннотация
OBJECTIVES: Kallmann syndrome (KS) usually combines an anosmia and a hypogonadotrophic hypogonadism. Hearing impairment was described in a few cases of KS. Our objective is to describe an unusual presentation of KS in 2 cases and to explore the pattern of inheritance in this family.
PATIENTS: Two brothers presented with a sensorineural hearing impairment associated with cryptorchidism and abnormal movements.
RESULTS: Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome. The absence of familial history has been explained by a somatic mosaicism identified in their mother.
CONCLUSION: The description of a hearing defect in 2 brothers with Kallmann syndrome allows asserting that deafness is part of the clinical features of this disease and must lead the physician to monitor the hearing function of Kallmann patients.
PATIENTS: Two brothers presented with a sensorineural hearing impairment associated with cryptorchidism and abnormal movements.
RESULTS: Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome. The absence of familial history has been explained by a somatic mosaicism identified in their mother.
CONCLUSION: The description of a hearing defect in 2 brothers with Kallmann syndrome allows asserting that deafness is part of the clinical features of this disease and must lead the physician to monitor the hearing function of Kallmann patients.