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Hanhart's syndrome I
Also known as:
Hanhart dwarfism
Hanhart nanism
Associated persons:
Ernst Hanhart
Description:
After a normal infancy and early childhood, growth retardation becomes evident between 1,5 and 6 years of age. In the following years this result in a slow proportionate growth. There is diminished or absent libido; occasionally, mental retardation. Typical facies; occasionally brachycephaly. Adipose tissue hyperplasia on breast and abdominal regions; late development of gonads and of secondary sexual characteristics.
The disturbance seems to affect only a closely inbred group of people in Switzerland and the Adriatic island of Veglia. Hanhart recognised the disorder in two villages with high occurrence of consanguinity in western Switzerland, Oberegg in Canton Appenzell, and Samnaun in Graubünden (French: Grisons). Inheritance is autosomal recessive. Both sexes equally affected.
Bibliography:
- E. Hanhart:
Über heredodegenerativen Zwergwuchs mit dystrophia adiposo-genitalis. An Hand von Untersuchungen bei drei Sippen von proportionierten Zwergen.
Archiv der Julius Klaus-Stiftung für Vererbungsforschung, Sozialanthropologie und Rassenhygiene, Zürich, 1925, 1: 181.
Die rolle der Erbfaktoren bei den Störungen des Wachstums.
Schweizerische medizinische Wochenschrift, Basel, 1953, 83: 198-203.
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