The infant had short broad thumbs in the hands similar to those observed in the feet. There were no chromosomal abnormalities. [ncbi.nlm.nih.gov]

Both children had typical manifestations of AO type I, with severe rhizomelic shortening of the extremities, limited elbow and knee extension with mild webbing, pectus excavatum, broad thumbs with brachydactyly that was most marked for digits 3-5, dislocated [experts.umn.edu]

A common pathogenesis is suggested for atelosteogenesis type I and boomerang dysplasia. A marked excess of male fetuses with boomerang dysplasia was observed. [ncbi.nlm.nih.gov]

The molecular analysis of the father was crucial to suggest the diagnosis of AOI in the newborn, since she died early and there were no biological samples available. [scielo.br]

neck ; Short nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn symbols: AL024016 ) Source OMIM: [mousephenotype.org]

Affiliated tissues include bone, testes and eye, and related phenotypes are malar flattening and short neck Genetics Home Reference : 26 Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. [malacards.org]

It is often confused with diastrophic dysplasia owing to similar symptoms. Atelosteogenesis type II is an extremely rare disorder of cartilage and bone development in infants. Those with the disorder are usually stillborn. [onlymyhealth.com]