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]

• Broad Thumb

  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]

  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]

• Pharyngitis

  A patient with the p.Ala173Val mutation was reported to have vertebral abnormalities and carpal and pharyngeal abnormalities. Mutations in FLNB produce diverse phenotypes depending on their nature and location [ 24 ]. [synapse.koreamed.org]

• Suggestibility

  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]

• Short Neck

  […] femur ; Short humerus ; Short metacarpal ; Short metatarsal ; Short neck ; Short nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP [mousephenotype.org]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]

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]

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]

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 - Atelosteogenesis type 2 Not supplied. Treatment - Atelosteogenesis type 2 Not supplied. Resources - Atelosteogenesis type 2 [checkorphan.org]

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]

雑誌 Am J Med Genet 47:660-78 (1993) DOI: 10.1002/ajmg.1320470517 文献 PMID: 24123981 著者 Trainor PA, Andrews BT タイトル Facial dysostoses: Etiology, pathogenesis and management. [genome.jp]

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]

Epidemiology [ edit ] This is a rare condition with a prevalence of < 1/10 6. [en.wikipedia.org]

American Journal of Medical Genetics Part A, 146A, 1917-1924. http://dx.doi.org/10.1002/ajmg.a.32269 [ 3 ] Barbosa-Buck, C.O., Orioli, I.M., da Graca Dutra, M., Lopez-Camelo, J., Castilla, E.E. and Cavalcanti, D.P. (2012) Clinical Epidemiology of Skeletal [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]

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]

The clinical course of one child was influenced by airway instability and bronchopulmonary dysplasia that complicated intubation and prevented separation from ventilator support. [experts.umn.edu]

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]