These cases share several major manifestations including intrauterine growth retardation (12/13), generalized edema (1 1/12), microcephaly (1 1/12), central nervous system abnormalities (9/9), and early death (13/13). Most mothers have had polyhydramnios (10/12), and a short cord was mentioned in six instances. Chromosomes have been normal in all cases studied. Autosomal recessive inheritance has been inferred because of recurrence in sibs of both sexes in four families [Neu et al, 1971;Laxova et al, 1972; Povj%ilova et al, 1976; and Lazjuk et al, 1979*].
Despite important similarities among these cases, distinct differences in the limbs, skin, and skeletal radiographs suggest that these patients may have more than one syndrome. Classification of these patients based on differences in limb and skin manifestations and bone films appears to separate the cases into three groups. In the table below are listed the distinguishing changes.
In Group I (Neu et al, 1971; Lazjuk et al, 1979; Winter et a1 (case l), 1981; and Scott et a1 (case 3), 19811 infants have joint contractures, partial syndactyly, scaly skin and poorly-mineralized bones.
Group I1 cases [Laxova et al, 1972 and Pov@ilova et al, 19761 show massive swelling of the hands and feet due to edema and deposition of excessive fat. Most of these cases (4/5) also had more markedly ichthyotic skin changes than noted in Group I cases. X-ray findings are similar to those of Group I cases except for the occurrence of intrauterine fractures in two cases.
Group I11 cases [Scott et a1 (cases 1 and 2), 19811 are distinctive-appearing shortlimb dwarfs with nubbin-like hypoplastic digits. They show severe ichthyosis with an appearance similar to that of the harlequin fetus. Bone films show thin "stick-like" long bones. Both infants in this group also had severe microtia not seen in any of the other cases.
Figure 1 shows representative limb findings in the other three groups, and Figure 2 demonstrates the radiologic differences between Group I and Group 111.