Bustos Lozano G, Barrionuevo Porras J L, Sánchez de Pozo J, Lledó G, Gallego M
Departamento de Pediatría, Hospital 1. de Octubre, Madrid.
An Esp Pediatr. 1988 May;28(5):451-3.
Authors described a new case of Coffin Lowry syndrome which presents a severe form, typical of males. Slight degree of affection in the mother and sister supports hypothesis of X-linked dominant trait. Authors want to underline normal appearance of the newborn period and progressive appearance of both neurological alterations and typical face of this condition. They have observed repetitive pneumonia probably produced by alimentary aspiration.
作者描述了一例严重型的考芬-洛里综合征新病例，该型在男性中较为典型。母亲和姐妹症状较轻支持X连锁显性遗传特征的假说。作者想要强调新生儿期外观正常，以及这种疾病的神经改变和典型面容逐渐显现。他们观察到反复出现的肺炎可能是由食物误吸所致。
