Atelosteogenesis type III

A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


Total: 3

                       


(per page)
PMID (PMCID)
27258362
 FEMALE
Atelosteogenesis type III: orthopedic management.
Sarikaya IA, Gorgun B, Erdal OA.
J Pediatr Orthop B. 2017;26(6):546-551.
Atelosteogenesis type III is a rare autosomal dominant skeletal dysplasia caused by mutations in the synthesis of the protein filamin B (FLNB).
10076882
 MIXED_SAMPLE Adult
Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission.
Schultz C, Langer LO, Laxova R, Pauli RM.
Am J Med Genet. 1999;83(1):28-42.
The clinical and radiologic phenotype of atelosteogenesis, type III overlaps with that of another skeletal dysplasia, autosomal dominant Larsen syndrome; these most likely represent allelic conditions.
2368807
 MIXED_SAMPLE Infant, Newborn
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.
Stern HJ, Graham JM Jr, Lachman RS, Horton W, Bernini PM, Spiegel PK, Bodurtha J, Ives EJ, Bocian M, Rimoin DL.
Am J Med Genet. 1990;36(2):183-95.
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.