Rosanowski F, Hoppe U, Hies T, Eysholdt U
Abteilung für Phoniatrie und Pädaudiologie, Universitäts-HNO-Klinik Erlangen, Nürnberg.
HNO. 1998 Oct;46(10):876-8. doi: 10.1007/s001060050328.
The Johanson-Blizzard syndrome is a rare autosomal recessive syndrome with ectodermal dysplasia. ENT findings in the syndrome include profound bilateral hearing loss, aplasia of the alae nasi and dental malformations. To date approximately 30 cases have been described.
We report our findings in a female patient who was born as the second child of consanguine parents. Pregnancy was normal, birth weight 3620 g and body length 52 cm. She was hospitalized immediately after birth because of anal atresia and facial dysmorphism with aplastic alae nasi, mongoloid eye slant and slightly dystopic ears. Bilateral symmetric profound hearing loss was diagnosed by subjective hearing tests and confirmed by auditory evoked brainstem potentials. Otoacoustic emissions were absent. Hearing aids were successfully fitted. Other malformations were a duplex of the uterus and vagina and exocrine pancreatic insufficiency. The anal atresia was corrected surgically.
In general, the exocrine pancreatic insufficiency in the Johanson-Blizzard syndrome requires careful medical management. The aplastic alae nasi require no specific therapy, while in our case in the hearing loss could be treated with hearing aids.
约翰森-布莱兹德综合征是一种罕见的伴有外胚层发育异常的常染色体隐性综合征。该综合征的耳鼻喉科表现包括双侧严重听力丧失、鼻翼发育不全和牙齿畸形。迄今为止，已报道了约30例病例。
我们报告了一名女性患者的情况，她是近亲父母的第二个孩子。孕期正常，出生体重3620克，身长52厘米。她出生后因肛门闭锁和面部畸形（鼻翼发育不全、内眦赘皮、眼睛呈蒙古人样斜裂、耳朵轻度异位）立即住院。通过主观听力测试诊断为双侧对称性严重听力丧失，并经听觉诱发电位证实。耳声发射缺失。成功佩戴了助听器。其他畸形包括双子宫、双阴道和外分泌性胰腺功能不全。肛门闭锁通过手术矫正。
一般来说，约翰森-布莱兹德综合征中的外分泌性胰腺功能不全需要仔细的医疗管理。鼻翼发育不全无需特殊治疗，而在我们这个病例中，听力丧失可用助听器治疗。
