- Kaufmann's syndrome
- Parrot's syndrome I
- Kaufmann's disease
A form of disproportionate short-limb dwarfism with characteristic malformations of bone. The proximal segments of upper extremities are shorter than middle and distal ones. The head is abnormally broad with characteristic facies marked by frontal bossing, depressed nasal bridge, and hypoplasia of the midface with narrow nasal passages. Trident hand with relatively short fingers and limited elbow extension are common. Often associated with malformation of the pelvis. Transmitted as an autosomal dominant trait.
- J. M. Parrot:
Les malformations achondrodysplasiques.
Bulletins de la Société d’anthropologie de Paris, 1878.
Parrot coined the term achondroplasy.
- E. Kaufmann:
Untersuchungen über die sogenannte foetale Rachitis (Chondrodystrophia foetalis).
Berlin, Reimer, 1892.