Barona R, Armengot M, Garín L, Montalt J, Basterra J
Hospital General Universitario, Servicio de O.R.L., Facultad de Medicina, Valencia.
An Otorrinolaringol Ibero Am. 1993;20(2):133-41.
In this syndrome there is a disproportionate dwarfism with kyphoscoliosis, stiffness of the joints, minor facial dysmorphia, myopia and both conductive and sensorineural deafness in 50 percent of patients. It is a dominant autosomic heritable malady of unknown incidence, but both sexes seems equally affected. The patient's condition is diagnosed at birth, because of the short limbs and the enlargement of the joints. In the presented case, diagnosed at birth, the deafness was suppose to be transmissive, owing to the coexistence of a cleft palate, and consequently a grommet was inserted in the tympanum. Only afterwards, when the girl was 12 years old, the cochlear component of the hypoacusis fell in consideration.
在这种综合征中,存在不成比例的侏儒症,伴有脊柱后侧凸、关节僵硬、轻度面部畸形、近视,50%的患者还伴有传导性和感音神经性耳聋。这是一种显性常染色体遗传性疾病,发病率未知,但男女似乎受影响程度相同。由于四肢短小和关节肿大,患者在出生时就被诊断出病情。在本病例中,患儿出生时即被诊断,由于同时存在腭裂,耳聋被认为是可遗传的,因此在鼓膜中插入了通气管。直到后来,女孩12岁时,才考虑到听力减退的耳蜗部分问题。