Dysharmonic Maturation of the Hand in the

In many congenital malformation syndromes the pattern of hand-wrist development does not fit the sequence pictured in the Greulich-Pyle atlas. Not infrequently, there is a difference in maturation level of carpal and phalangeal centers in excess of that found in clinically normal children. Usually, the carpal centers are less developed than the phalangeal centers, whereas overall skeletal maturation is retarded (as in trisomy 18) or advanced (as in cerebral gigantism). In still other conditions, specific carpal centers are disproportionately delayed. By way of example, the capitate is differentially delayed in epiphyseal dysplasia, the lunate in homocystinuria, and the scaphoid in Fanconi’s anemia and other radial hypoplasia syndromes. Side to side (i.e., bilateral) asymmetries may also occur in the developing hand, as in paralysis, in conditions involving increased local vascularity (as in hemangioma and rheumatoid arthritis) or in conditions associated with decreased vascularity. In the presence of excessive dysharmonic development or major bilateral asymmetry, with or without agenesis of one or more hand bones, assigning meaningful bone ages in congenital malformation syndromes becomes difficult. On the other hand, the degree and pattern of dysharmonic maturation may be helpful in diagnosis. There is frequently difficulty in evaluating skeletal maturation of children when the pattern does not fit the classic patterns described in the literature. This problem is compounded in children affected with the congenital malformation syndromes because of the high incidence of unusual ossification sequences or patterns and abnormality of configuration of epiphyses and carpals. When variation from normal is extreme, the concept of skeletal age becomes less meaningful In our search for a name for these local variations in maturation, Alex Roche of the Fels Research Institute suggested the term “dysharmonic maturation.” The analysis of these abnormalities in the congenital malformations will be the subject of this paper. We will consider dysharmonic maturation, either from the point of view of onset of ossification (Garn, Rohmann and Silverman, ’67), or on the basis of maturity indicators (Greulich and Pyle, ’59). It (fig. 1). certainly would be possible to consider i t also on the basis of completion of ossification (Stuart et al., ’62). In considering dysharmonic maturation of the hand, we will include (1) differences in ossification rate between the carpals and the phalangeal epiphyses, ( 2 ) delay or advancement of specific centers, and ( 3 ) side to side asymmetry. We will not consider differences in maturation between various portions of the body. Certainly these occur in both normal and abnormal individuals (Garn, Rohmann and Silverman, ’67), but so far we have relatively little data on this type of dysharmony in the malformation syndromes. We have seen differences in maturation of the teeth and knees in infants with several congenital anomalies, but the data is still sketchy and evaluation tenuous. There is considerable variation in ossification order even in a normal population. In considering only six of the carpals, Garn and Rohmann (’60a) found that only 49% of boys and 61% of girls 41 7 AM. J. PHYS. ANTHROP., 35: 4 1 7 4 3 2 . 418 POZNANSKI, GARN, KUHNS AND SANDUSKY Fig. 1 Hurler's syndrome. Five and eight-tenths year old female. There is marked retardation of the capitate and hamate with irregularity of their margins. The epiphyses are also irregular and retarded. When marked abnormality of configuration is present, evaluation of skeletal age becomes less meaningful. followed the capitate-hamate-triquetrumalso evident when various normal series lunate-trapezium-trapezoid order. For are compared (Stuart et al., '62; Garn these six bones alone, 13 different seand Rohmann, '60a). Variations in sequences were observed in normal boys quence also exist between males and and ten in normal girls. Differences are females (Garn, Rohmann and Blumenthal, 419 DYSHARMONIC MATURATION IN MALFORMATIONS ’66). The triquetrum, for example, according to Stuart et al. (‘62), is the sixteenth bone in the male and twenty-third bone in the female. In the data of Garn and Rohrnann (’60a) the difference is not as extreme. Sequence variation is also related to race (Lee et al., ’68) and may also be genetically determined. Garn, Rohmann and Davis (’63) found a correlation between children and their parents (about 0.3). There was higher correlation between siblings (0.4 to 0.6) and even higher correlations between monozygotic twins (about 0.9). Generally speaking, sisters are more alike in ossification timing than brothers. Malnutrition has been associated with an increased frequency of abnormal sequences (Dreizen et al., ’64). This may, however, be due to their slow maturation rate. Garn, Rohmann and Blumenthal (’66) have shown that a slow rate of ossification tends to produce an apparently large number of abnormal sequences if a longitudinal study is not used, since the sampling procedure tends to separate out sequences so they are seen rather than being missed. Also, when children below the fifth percentile of number of centers, using the standard of Garn and Rohmann (’60b), were compared to those above the ninetyfifth percentile of centers in the ten state Nutrition Survey different onset ossification sequences were evident (table 1). The term “relative delay of a carpal” is used for the situation when a carpal is absent but a t least one center which “normally” follows it is present. Relative advancement of a carpal means that a carpal was present ahead of some phalangeal or metacarpal epiphysis which “normally” is present before it. The “normal” sequence with which these ossification patterns were compared was the median sequence described by Garn, Rohmann and Silverman (‘67). The triquetrum was relatively delayed in 28.5% of the retarded (5th percentile group of the 10 state Nutrition Survey), but in only 11.5% of the advanced group (95th percentile). Some carpal bone was relatively advanced in 18.7% of the advanced group, but only in 3.3%) of the retarded group. The most commonly advanced bone in the ninetyfifth percentile group was the lunate. From these data it is evident that in the evaluation of sequence variation in children with markedly delayed or advanced maturation in the malformation syndromes a group of normal children with similarly advanced or retarded maturation should be used as controls. There may be a lack of parallelism between the sequence of onset of ossifica-