Abstract We present a case of rhizomelic dwarfism with clinical, radiographic and histologic features in keeping with atelosteogenesis type III (spondylohumerofemoral hypoplasia). [ncbi.nlm.nih.gov]

AB - We present 5 cases of a short-limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto-palato-digital syndrome Type II. [jhu.pure.elsevier.com]

The detailed description of this patient should contribute to earlier diagnosis of this condition; anticipation of the poor prognosis in AO1 is essential for appropriate genetic counseling of the parents and for determining postnatal treatment options [ncbi.nlm.nih.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Our surviving patient further defines the radiographic features of the condition and the natural history and prognosis for physical and intellectual disability. [ncbi.nlm.nih.gov]

Prognosis Prognosis is poor. Death is often due to a combination of pulmonary hypoplasia and tracheobronchomalacia early in life. Last updated: 7/1/2013 [rarediseases.info.nih.gov]

Prognosis Prognosis is poor. Death is often due to a combination of pulmonary hypoplasia and tracheobronchomalacia early in life. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis: Lethal in utero or shortly after birth due to respiratory failure. Recurrence: In the majority of cases ( de novo mutations): no increased risk. In the rare cases of autosomal recessive inheritance: 25%. [fetalmedicine.org]

We conclude that it is reasonable to consider AT-I and boomerang dysplasia as part of a spectrum, probably reflecting a common etiology. [ncbi.nlm.nih.gov]

Etiology Atelosteogenesis I results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B ( FLNB ) located to 3p14. [rarediseases.info.nih.gov]

[…] genetic cause, the dysplasias can be broadly grouped by the function of the protein product of the causative gene Many of the genes mutated in skeletal dysplasias encode proteins that play critical roles in the growth plate Radiographics 2008;28:1061 Etiology [pathologyoutlines.com]

Epidemiology AOI is a very rare infrequently described disorder. [rarediseases.info.nih.gov]

Summary Epidemiology AOI is a very rare infrequently described disorder. [orpha.net]

Castilla, E.E. and Cavalcanti, D.P. (2012) Clinical Epidemiology of Skeletal Dysplasias in South America. [scirp.org]

[…] prevalence of skeletal dysplasias (excluding limb amputations) is estimated at 2.14 per 10,000 births ( Am J Med Genet 1996;61:49 ) Males are primarily affected in X linked recessive disorders; otherwise, males and females are usually equally affected Pathophysiology [pathologyoutlines.com]

Physiology and pathophysiology of the growth plate. Birth Defects Res C Embryo Today 2003; 69 : 123–143. 5. Ballock RT, O'Keefe RJ. The biology of the growth plate. J Bone Joint Surg Am 2003; 85 : 715–726. 6. [nature.com]

The clinical course of one child was influenced by airway instability and bronchopulmonary dysplasia that complicated intubation and prevented separation from ventilator support. [ncbi.nlm.nih.gov]

Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis type 2. Prevention - Atelosteogenesis type 2 Not supplied. [checkorphan.org]

Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis, type 2. [research.omicsgroup.org]