Orthopaedic Department, Royal Hospital for Sick Children, Glasgow, Scotland, United Kingdom.
Clin Anat. 2012 Sep;25(6):781-4. doi: 10.1002/ca.22041. Epub 2012 Jan 31.
We report the case of a 2-week-old girl born at term (by vaginal delivery and without antenatal or perinatal events) who was referred as having "bilateral talipes and bilateral proximal symphalangism of little and ring fingers." The "talipes" was atypical with marked equinus and varus, but no cavus or adductus of the midfoot. Her mother had both symphalangism (absence of proximal interphalangeal joints) of middle, ring, and little fingers bilaterally and fixed pes planus with a rigid fixed hindfoot-and these deformities had also been present from birth. The maternal grandmother was similarly affected. However, the neonatal subject has an unaffected older sibling; maternal siblings are also unaffected. The three affected people did not have other obvious musculoskeletal abnormalities. Because of the coalitions, the child's atypical talipes was managed by a modified Kite's procedure. Symphalangism-coalition syndromes may be associated with conductive deafness because of fusion of the auditory ossicles.
我们报告了一例 2 周大的女婴,足月顺产(无产前或围产期事件),被转诊为“双侧马蹄内翻足和双侧小指和无名指近端并指”。“马蹄内翻足”表现为明显的马蹄内翻和内翻,无前足内收或内翻,但无中足高弓畸形。她的母亲双侧小指、环指和中指均有并指(近端指间关节缺失),且有固定性扁平足和僵硬的固定后足畸形——这些畸形从出生时就存在。其外祖母也有同样的情况。然而,新生儿有一个未受影响的哥哥;母亲的兄弟姐妹也没有受到影响。这三个人没有其他明显的肌肉骨骼异常。由于存在融合,患儿的非典型马蹄内翻足采用改良的 Kite 手术进行治疗。并指-融合综合征可能因听小骨融合而导致传导性耳聋。