BIOMAT Database Logo BIOMAT Database Logo

Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder. 1992

P N Kantaputra, and R J Gorlin, and L O Langer
Department of Pediatric Dentistry, School of Dentistry, Chiangmai University, Thailand.

A new type of mesomelic dysplasia was in 3 generations of a large Thai family. It is characterized by bilateral symmetrical marked shortening of the ulnae and shortening and bowing of the radii. The proximal fibula is usually short and synostoses are present between the tibia and fibula and the small malformed calcaneus and talus. The prominent calcanei on the ventral surfaces of the distal fibulae are a characteristic feature of the new type. Carpal and tarsal synostoses are present in some affected people. All affected individuals walk on the tips of their toes with the dorsal foot deviated laterally. The deformities of the radius and ulna somewhat resemble those of mesomelic dysplasia, Langer type, but otherwise the condition is distinctly different. This new mesomelic dysplasia is an autosomal dominant trait with complete penetrance and variable expressivity over 3 generations.

UI MeSH Term Description Entries
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011884 Radius The outer shorter of the two bones of the FOREARM, lying parallel to the ULNA and partially revolving around it. Radial Tuberosity,Radial Tuberosities,Tuberosities, Radial,Tuberosity, Radial
D002348 Carpal Bones The eight bones of the wrist: SCAPHOID BONE; LUNATE BONE; TRIQUETRUM BONE; PISIFORM BONE; TRAPEZIUM BONE; TRAPEZOID BONE; CAPITATE BONE; and HAMATE BONE. Bone, Carpal,Bones, Carpal,Carpal Bone
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004200 Diseases in Twins Disorders affecting TWINS, one or both, at any age. Diseases in Twin,Twin, Diseases in,Twins, Diseases in,in Twin, Diseases,in Twins, Diseases
D005260 Female Females
D005360 Fibula The bone of the lower leg lateral to and smaller than the tibia. In proportion to its length, it is the most slender of the long bones. Fibulas
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities

Related Publications

P N Kantaputra, and R J Gorlin, and L O Langer
A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia Savarirayan and Nievergelt types.
September 2007, American journal of medical genetics. Part A,
P N Kantaputra, and R J Gorlin, and L O Langer
Dentin dysplasia, type II: a rare autosomal dominant disorder.
October 1977, Oral surgery, oral medicine, and oral pathology,
P N Kantaputra, and R J Gorlin, and L O Langer
Severe autosomal dominant upper-limb mesomelic dysplasia: report of a second family.
December 2005, Clinical genetics,
P N Kantaputra, and R J Gorlin, and L O Langer
Polycystic bone disease: A new, autosomal dominant disorder.
August 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research,
P N Kantaputra, and R J Gorlin, and L O Langer
An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei.
December 1985, American journal of medical genetics,
P N Kantaputra, and R J Gorlin, and L O Langer
A new form of rhizo-mesomelic bone dysplasia.
January 1995, Pediatric radiology,
P N Kantaputra, and R J Gorlin, and L O Langer
New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis.
July 1994, American journal of medical genetics,
P N Kantaputra, and R J Gorlin, and L O Langer
[Symmetrical carpal and tarsal synostosis in 4 generations].
February 1968, Zeitschrift fur Orthopadie und ihre Grenzgebiete,
P N Kantaputra, and R J Gorlin, and L O Langer
Mesomelic dysplasia: Langer type.
February 1994, Australasian radiology,
P N Kantaputra, and R J Gorlin, and L O Langer
[Langer's type mesomelic dysplasia].
December 2007, Anales de pediatria (Barcelona, Spain : 2003),
Copied contents to your clipboard!