Growth deficiency dysmorphic syndromes

Abstract

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.