Toriello H V, Higgins J V
Spectrum Health Genetics Services, Grand Rapids, MI 49503, USA.
Clin Dysmorphol. 1999 Apr;8(2):143-5.
We report on a child we believe may have the same condition described in five children by Burn et al., in 1992 (Clin Dysmorphol 1:137-144). Component manifestations include choanal atresia, cardiac defects, prominent ears, hearing loss, and minor facial anomalies. Our patient also has rather significant short stature, thus adding to the variable phenotype of this condition.
我们报告了一名儿童,我们认为其可能患有Burn等人在1992年描述的五名儿童所患的相同病症(《临床畸形学》1:137 - 144)。组成表现包括后鼻孔闭锁、心脏缺陷、招风耳、听力丧失以及轻微面部异常。我们的患者还存在相当明显的身材矮小,从而增加了这种病症表型的变异性。