- Nievergelt-Erb syndrome
- Nievergelt-Pearlman syndrome
- Pearlman's syndrome
A rare, inheritable bone disease characterized by deformities of the radius, ulna, tibia, and fibula. There is symmetric dysplasia of elbows, luxation of ulna or radial heads, radioulnar synostosis, brachydactyly, flexion of fingers, symmetric dysplasia of lower legs, genu valgum, clubfoot, deformed great toes. The tibia and fibula have a characteristic rhomboid form (crura rhomboidei). Inheritance is believed to be autosomal dominant, with variability of expression. Both sexes affected, prevalent in males; onset from birth.
According to one writer, a study of constantly inherited characteristics in certain families indicates the presence of a sufficient number of bony malformations of the extremities to constitute genetic entities. These features are the result of a dominant type of transmission with such a deep degree of penetrance that the constant occurrence of the malformations offers unequivocal proof of parentage in questionable instances. The disease was originally described in a father and his three sons by different mothers.
- K. Nievergelt:
Positiver Vaterschaftsnachweis auf Grund erblicher Fehlbildungen der Extremitäten.
Archiv der Julius Klaus Stiftung für Vererbungsforschung, Sozialanthropologie und Rassenhygiene, Zürich, 1944, 157-194.
- H. S. Pearlman, et al:
Familial tarsal and carpal synostosis with radial-head subluxation (Nievergelt’s syndrome).
Journal of Bone and Joint Surgery, Boston, 1964, 46-A: 585-592.
- K. A. Solonen, M. Sulamaa:
Nievergelt syndrome and its treatment: a case report.
Annales chirurgicae et gynaecologiae fenniae, Helsinki, 1958, 47: 142-147.