A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.

Abstract

Two siblings with a short-limb dwarfing condition which we call acromesomelic dysplasia, Hunter-Thompson type are reported. Abnormalities are limited to the limbs and limb joints in this severe form of dwarfism. The middle and distal segments of the limbs are most affected. The lower limbs are more affected than the upper. We are aware of one previously published case of this entity reported by A. G. W. Hunter and M. W. Thompson in 1976. Dislocations of the elbows and ankles were present in all three patients and dislocations of the hips and knees in two. One of the siblings who did not have hip and knee dislocations clinically resembled Grebe chondrodysplasia, another severe acromesomelic dwarfing condition. However, radiological analysis suggests that while acromesomelic dysplasia, Hunter-Thompson type and Grebe chondrodysplasia are related, they are not identical. Grebe chondrodysplasia has been established as an autosomal recessive trait. It appears probable that the entity we describe has the same mode of genetic transmission.

• Authors: L O Langer Jr, J Cervenka, M Camargo
• Journal: Human genetics (Hum Genet) Vol. 81 Issue 4 Pg. 323-8 (Mar 1989) ISSN: 0340-6717 [Print] Germany
• PMID: 2703235 (Publication Type: Case Reports, Comparative Study, Journal Article)

Topics

• Adolescent
• Adult
• Colombia
• Dwarfism (genetics)
• Female
• Genes, Recessive
• Humans
• Limb Deformities, Congenital
• Male
• Osteochondrodysplasias (genetics)
• Pedigree