Smith D W
Postgrad Med J. 1978;54 Suppl 1:147-57.
The precept is set forth that many patterns of malformation are the consequences of congenital hypoplasia in the skeletal system, as in osteochondrodysplasias, or in multiple tissues as in a host of dysmorphic syndromes. The disorders include those caused by most known teratogens in man, by chromosomal abnormalities, mutant gene disorders and a number of syndromes of unknown etiology. Not uncommonly there is a good correlation between the degree of linear growth deficiency and brain growth deficiency within a particular syndrome. Postnatally there is usually a lack of catch-up growth; the children tend to grow at a normal rate for their diminished size by birth. Because there is often a problem in skeletal morphogenesis, roentgenographic interpretation for 'bone age' may be misleading in terms of maturational age. There is no known therapy for congenital hypoplasia disorders, and the ultimate prognosis for height may be judged from the height of adults with the particular disorder in question and related to genetic background of the parents. For example, the adult growth of girls with XO Turner syndrome tends to be about 3.7 SD's below that expected for mean parental height.
许多畸形模式是骨骼系统先天性发育不全的后果，如骨软骨发育不良，或像许多畸形综合征那样是多种组织先天性发育不全的后果。这些病症包括由人类大多数已知致畸原引起的疾病、由染色体异常、突变基因疾病以及一些病因不明的综合征引起的疾病。在特定综合征中，线性生长缺陷程度与脑生长缺陷程度之间通常存在良好的相关性，这并不罕见。出生后通常缺乏追赶生长；儿童往往以与其出生时减小的体型相称的正常速度生长。由于骨骼形态发生常常存在问题，就成熟年龄而言，“骨龄”的X线解释可能会产生误导。目前尚无针对先天性发育不全病症的已知疗法，最终身高预后可根据患有特定相关病症的成年人的身高以及其父母的遗传背景来判断。例如，患有XO特纳综合征的女孩成年后的身高往往比按父母平均身高预期的低约3.7个标准差。
