Goldberg C J, Fogarty E E, Moore D P, Dowling F E
Our Lady's Hospital for Sick Children, Dublin, Ireland.
Spine (Phila Pa 1976). 1997 Apr 1;22(7):775-9. doi: 10.1097/00007632-199704010-00014.
Prints of palmar dermatoglyphics (epidermal ridges) of individuals with congenital vertebral anomaly were compared, using symmetry criteria, with those of healthy control individuals. Asymmetries have been reported in adolescent idiopathic scoliosis and, from other centers, in other congenital anomalies, such as cleft lip and palate. Application of these methods to congenital vertebral anomaly seemed promising.
To challenge the hypothesis that, in congenital vertebral anomaly, epigenesis was disrupted by nonspecific physiologic stress during the embryonic period, resulting in anatomic malformations.
Dermatoglyphics (palmar epidermal ridges) are formed at the end of the embryonic period under genetic control and do not change thereafter. They thus give an indication of the stability or otherwise of development at that early stage. This led to the hypothesis that congenital vertebral anomaly results from destabilization of genetic developmental control in the embryonic period.
The dermatoglyphics of 126 healthy control individuals and 99 people with congenital vertebral anomaly were compared quantitatively, using right-left differences of atd angles and ab, bc, and cd ridge counts.
Fluctuating asymmetry (a significantly increased variance about the mean) was observed in individuals with congenital vertebral anomaly. This is a measure of instability of genetic development processes and the increased probability that these processes will be destabilized by environmental stress during ontogeny. They also showed an increased incidence of ridge dissociation, suggestive of a generalized insult during the embryonic period.
These findings suggest that congenital vertebral anomalies arise from a nonspecific insult during the embryonic period that destabilizes the developmental control systems and may result in congenital malformations of any organ undergoing concurrent epigenesis.
采用对称性标准，将先天性椎体异常个体的手掌皮纹（表皮嵴）印记与健康对照个体的进行比较。青少年特发性脊柱侧凸以及其他中心报道的其他先天性异常，如唇腭裂，均存在不对称现象。将这些方法应用于先天性椎体异常似乎很有前景。
验证以下假设，即在先天性椎体异常中，胚胎期非特异性生理应激会破坏表观遗传，从而导致解剖学畸形。
皮纹（手掌表皮嵴）在胚胎期结束时在基因控制下形成，此后不再改变。因此，它们能表明早期发育的稳定性。这引发了一种假设，即先天性椎体异常是由胚胎期基因发育控制的不稳定导致的。
使用atd角以及ab、bc和cd嵴纹计数的左右差异，对126名健康对照个体和99名先天性椎体异常患者的皮纹进行定量比较。
在先天性椎体异常个体中观察到波动不对称（均值周围方差显著增加）。这是基因发育过程不稳定的一种度量，以及这些过程在个体发育过程中因环境应激而不稳定的可能性增加。他们还表现出嵴纹分离的发生率增加，提示胚胎期存在全身性损伤。
这些发现表明，先天性椎体异常源于胚胎期的非特异性损伤，这种损伤会破坏发育控制系统，并可能导致任何同时进行表观遗传的器官出现先天性畸形。
