Figuera L E, Ramírez-Dueñas M L, Dávalos I P, Cantú J M
División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
Clin Dysmorphol. 2002 Oct;11(4):243-7. doi: 10.1097/00019605-200210000-00003.
A Mexican family is presented with the main clinical features of camptodactyly, a distinctive facial appearance because of ocular hypertelorism, telecanthus, symblepharon and spinal defects. Other clinical manifestations included: multiple nevi, simplified ears, retrognathia, congenital shortness of the sternocleidomastoid muscle, thin hands and feet, a small penis and mild mental retardation. Radiographic studies revealed spina bifida occulta at cervical and dorso-lumbar levels, increased bone trabeculae, cortical thickening and delayed bone age. The presence of five affected members through four generations suggests autosomal dominant inheritance although no male-to-male transmission was documented. The authors propose this as a new entity, and have designated it Guadalajara camptodactyly type III.
一个墨西哥家庭呈现出屈曲指的主要临床特征，因眼距过宽、内眦间距增宽、睑球粘连和脊柱缺陷而具有独特的面部外观。其他临床表现包括：多发性痣、耳部结构简化、下颌后缩、先天性胸锁乳突肌短小、手足纤细、小阴茎和轻度智力发育迟缓。影像学研究显示颈椎和胸腰段隐性脊柱裂、骨小梁增多、皮质增厚和骨龄延迟。四代中有五名受累成员，提示常染色体显性遗传，尽管没有记录到男性对男性的传递。作者将此提议为一种新的病症，并将其命名为瓜达拉哈拉屈曲指III型。
