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]
We present 5 cases of a short-limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto-palato-digital syndrome Type II.[ncbi.nlm.nih.gov]
We present a case diagnosed at 21 weeks of gestation in which antenatal sonographic and post-mortem radiological findings were correlated.[ncbi.nlm.nih.gov]
In the present report, we describe a female newborn with classic AOI leading to early neonatal death, whose diagnostic was based on prenatal radiological findings and on the physical examination of the father.[ncbi.nlm.nih.gov]
Renal microcysts and abnormal branching of the pancreatic duct were also present in 1 of the fetuses, and malrotation of the caecum and retinal dysplasia involving the optic nerve were identified in the other.[ncbi.nlm.nih.gov]
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.[ncbi.nlm.nih.gov]
This is the first documentation of survival to adulthood of an individual with this disorder, of prenatal diagnostic assessment of an affected individual, and of vertical transmission suggestive of autosomal dominant inheritance.[ncbi.nlm.nih.gov]
Sanger sequencing validated this variant, and genetic analysis of the patient's parents suggested a de novo occurrence of the variant.[ncbi.nlm.nih.gov]
Immunocytochemical analysis in HEK293 cells showed that the p.G663R mutation was localized within the cytoplasm, and not to the cell membrane, suggesting p.G663R is a loss-of-function mutation.[ncbi.nlm.nih.gov]
Affiliated tissues include bone, testes and eye, and related phenotypes are malar flattening and shortneck Genetics Home Reference : 26 Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body.[malacards.org]
Affiliated tissues include bone, testes and eye, and related phenotypes are malar flattening and shortneck Genetics Home Reference : 26 Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body.[malacards.org]
Affiliated tissues include bone , testes and eye , and related phenotypes are malar flattening and shortneck Genetics Home Reference : 25 Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body.[malacards.org]
neck Decreased length of neck 0000470 Short sacroiliac notch 0003185 Stillbirth Stillborn 0003826 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Thoracic hypoplasia Small chest Small thorax [ more ] 0005257 Showing of 25 Last[rarediseases.info.nih.gov]
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]
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 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]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.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]
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]
PrognosisPrognosis 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]
PrognosisPrognosis 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: 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 III results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, 13 and 27-33 resulting in the translation of filamin B protein with altered biochemical properties.[orpha.net]
Etiology Atelosteogenesis I results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B ( FLNB ) located to 3p14.[orpha.net]
[…] 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]
It provides essential clinical and pathophysiological information and discusses the pathogenesis of abnormalities as a basis for appropriate methods of investigation.[books.google.ro]
[…] 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]
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.[bionity.com]