Nievergelt Syndrome

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Classification according to ICD-10
Q78.8 Other specified osteochondrodysplasias
ICD-10 online (WHO version 2019)
Mrs. Alice Vance as "the bear-like woman" .jpg

The expression Nievergelt syndrome is the hereditary biological assessment of four different carriers of a clan with multiple malformations , namely atypical club feet with extensive synostosis of the tarsal bones , dysplasias of the elbow joints , or synostoses and dysplasias of the lower leg bones . The syndrome belongs to the mesomelic dysplasias , the main features of this skeletal dysplasia are synostoses and involvement of the middle (mesomelic) extremities.

Synonyms are mesomelic dysplasia type Nievergelt and mesomelic short stature type Nievergelt .

The name refers to the author of the first description from 1944 by the Swiss surgeon and orthopedic surgeon Kurt Nievergelt on the basis of a paternity report. In the case of a person with a characteristic, positive proof of paternity could be provided to the court with practical certainty due to the syndrome. The case law in similar cases is discussed in more detail.

Among the remarks on the genetic pathology of the individual symptoms and the entire syndrome, the genetic question and the formal genesis are given special consideration. Finally, reference is made to the importance of BRANDT's experiments in developmental mechanics for the understanding of the causes of limb malformations.

The Osebold-Remondini syndrome must be differentiated from a differential diagnosis .

literature

  • Kurt Nievergelt: Positive proof of paternity due to hereditary deformities of the extremities. In: Archiv d. Julius Klaus Foundation f. Hereditary research, social anthropology, etc. Racial hygiene. Volume 19, H. 1/2 Zurich 1944, pp. 157-195.

Individual evidence

  1. ^ Nievergelt syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  3. ↑ NIEVERGELT SYNDROME.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ K. Nievergelt: Positive proof of paternity due to hereditary malformations of the extreme extremities. In: Archive of the Julius Klaus Foundation Zurich , Vol. 19, pp. 157–194.

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