Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston.
Medical Genetics Unit, MassGeneral Hospital for Children, Boston.
Birth Defects Res. 2018 Jan;110(2):134-141. doi: 10.1002/bdr2.1184.
Postaxial polydactyly, type B is the most common type of polydactyly. The vestigial sixth finger is attached by a narrow neurovascular pedicle to the lateral aspect of the hand or foot at the level of the metacarpal-phalangeal joint or the metatarsal-phalangeal joint. The occurrence of this type of polydactyly varies among racial groups, by sex and sidedness. Postaxial polydactyly, type A is a fully developed extra digit on the lateral aspect of the hand or foot with a bifid fifth or sixth metacarpal/metatarsal and is much less common.
In a malformations surveillance program, the frequency in racial groups, sex ratio and the frequency of other anomalies can be established.
Five hundred forty-five affected infants were identified from 1972 to 2012 in the surveillance of 289,365 liveborn and stillborn infants and elective terminations because of fetal anomalies detected prenatally. Postaxial polydactyly, type B was an isolated anomaly in 95% of the affected newborns. There were more affected males than females. Black infants were affected more often than White infants: 0.91/100 vs. 0.035/100 infants. The dangling extra digit was much more common in the hands than in the feet.
Postaxial polydactyly, type B is almost always an isolated, mild malformation with no medical significance. Postaxial polydactyly, types B and A occurred in several infants, suggesting that either the underlying mutation(s) can cause both types of postaxial polydactyly or that some affected infants have more than one mutation. Autosomal dominant inheritance with variable expressivity is postulated.
轴后多指畸形 B 型是最常见的多指畸形类型。残余的第六指通过一条狭窄的神经血管蒂附着在手或脚的外侧,位于掌指关节或跖趾关节水平。这种类型的多指畸形在不同种族、性别和侧别中发生率不同。轴后多指畸形 A 型是一种完全发育的外侧手或足的额外指,具有分叉的第五或第六掌骨/跖骨,更为少见。
在畸形监测计划中,可以确定不同种族的发病率、性别比以及其他畸形的发生率。
在对 289365 例活产和死产儿以及因产前发现胎儿畸形而选择性终止妊娠的监测中,1972 年至 2012 年共发现 545 例患病婴儿。95%的患病新生儿为单纯性轴后多指畸形 B 型。男性患儿多于女性患儿,黑人患儿的发病率高于白人患儿:0.91/100 与 0.035/100。悬垂的额外指在手部比在足部更为常见。
轴后多指畸形 B 型几乎总是一种孤立的、轻度畸形,无医学意义。B 型和 A 型轴后多指畸形发生在数例婴儿中,提示潜在的突变(s)可能导致两种类型的轴后多指畸形,或者一些患病婴儿存在多种突变。假设为常染色体显性遗传,表现度可变。