- A dictionary of medical eponyms

Bamatter's syndrome

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A rare developmental disturbance of connective tissue with too early aging processes of the skin and generalised osteopenia, also characterized by growth retardation, hyperlaxity, atrophy, and predisposition to fractures. Associated disorders include joint muscle hypotonia, hernia, pes planus, hip dislocation, platyspondyly with biconcave vertebrae, thin skin with prominent veins, malocclusions, sunken eyes, and microcorneae. Etiology unknown. Inheritance is X-linked recessive with occasional manifestations in females. Less severe in female heterozygotes.

Bamatter, Franceschetti and Klein studied 5 affected members of a Swiss family and reported the disorder in the local medical press in 1949 and at an international level in 1950. The similarity of the phenotype manifestations to those of progeria was emphasised and they commented that their patients resembled the dwarfs in Walt Disney's Snow White and the Seven Dwarfs (1937), the first feature-length animated cartoon. The term "Walt Disney Dwarfism" was popular for some time, but has now fallen into disfavour. A politically correct term now might be "a short person with a mature appearance".

A further account of the affected Swiss family was published by Klein, Bamatter, Boreux, Brocher and Holenstein in 1968, and int eh following year Boreux suggested that inheritance might be X-linked recessive, with minor manifestations in hemizygous females. Further reports included accounts of affected children being born after an incestous relationship and siblings with the condition in an endogamous Mennonite religious isolate.


  • F. Bamatter, A. Franceschetti, D. Klein, A. Serro:
    Gérodermie osthéodysplastique héréditaire. Un noveau biotype de la «progeria».
    Confinia Neurologica, Basel, 1949, 9: 397. Gérodermie osthéodysplasique héréditaire.
    Ann Pédiatr (Basel), 1950, 174: 126-127.
  • D. Klein, F. Bamatter, A. Franceschetti, G. Boreux, J.E.W. Brocher, P. Holenstein:
    Une affection liée au sexe: la gérodermie ostéodysplastique héréditaire.
    Revue d'oto-neuro-ophthalmologie, Paris, 1968, 40: 415-421.
  • G. Boreux:
    La gérodermie ostéodysplastique héréditaire (20 ans d'observations).
    Revue d'oto-neuro-ophthalmologie, Paris, 1969, 17: 137-138.

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