Presentation
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]
Entire Body System
-
Broad Thumb
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]
Psychiatrical
-
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]
Face, Head & Neck
-
Short Neck
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nose ; Sporadic ; Stillbirth ; Talipes equinovarus ; Thoracic platyspondyly ; Tibial bowing Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn symbols: AL024016 ) Source OMIM: [mousephenotype.org]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]
Urogenital
-
Cryptorchidism
[…] otorhinolaryngological, sucking/swallowing, surgical maxillo-facial Phenotypes 11 pairs of ribs ; Aplasia/Hypoplasia of the ulna ; Autosomal dominant inheritance ; Brachydactyly ; Cleft palate ; Club-shaped proximal femur ; Clubbing ; Coronal cleft vertebrae ; Cryptorchidism [mousephenotype.org]
Neurologic
-
Confusion
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]
Treatment
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]
Prognosis
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]
Etiology
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
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]
Pathophysiology
[…] 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]
Prevention
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]