Tüysüz B, Erginel A, Unutmaz T, Cenani A
Department of Pediatrics, Istanbul University Cerrahpaşa Faculty of Medicine, Istanbul, Turkey.
Turk J Pediatr. 1994 Oct-Dec;36(4):347-52.
Hanhart's syndrome, an uncommon disorder characterized by severe micrognathia, hypoglossia and absence of the extremities, belongs to the oromandibular-limb hypogenesis group of diseases. Our patient was admitted with the complaints of abnormality of the mouth and absence of the upper extremities. Physical examination revealed severe micrognathia, a small tongue adhered to the base of the mouth, absence of bone, muscle and skin tissue at the lower edge of the right humerus and at the middle zone of the left ulna and radius. According to these findings, the diagnosis of hypoglossia-hypodactylia (Hanhart's) syndrome was made. At the age of 1 1/2 years, tympanometric examination revealed conductive hearing loss due to dysfunction of the eustachian tube. Auditory brainstem responses also revealed bilateral severe sensorineural hearing loss. A literature search revealed two cases of Hanhart's syndrome with conductive hearing loss, but no report of sensorineural hearing loss as part of this entity. Therefore, we present this case of Hanhart's syndrome with severe sensorineural hearing loss.
汉哈特综合征是一种罕见的疾病，其特征为严重小颌畸形、舌发育不全及四肢缺如，属于口下颌肢体发育不全疾病组。我们的患者因口腔异常及上肢缺如入院。体格检查发现严重小颌畸形、一小舌附着于口腔底部、右肱骨下缘及左尺桡骨中段无骨骼、肌肉及皮肤组织。根据这些发现，诊断为舌发育不全-指（趾）发育不全（汉哈特）综合征。1岁半时，鼓室导抗图检查显示因咽鼓管功能障碍导致传导性听力损失。听觉脑干反应也显示双侧严重感音神经性听力损失。文献检索发现两例汉哈特综合征伴有传导性听力损失的病例，但无作为该疾病一部分的感音神经性听力损失的报道。因此，我们报告这例伴有严重感音神经性听力损失的汉哈特综合征病例。
