Fanconi anemia x ray: Difference between revisions
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{{CMG}}; {{AE}} {{shyam}} | {{CMG}}; {{AE}} {{shyam}} | ||
==Overview== | ==Overview== | ||
X-ray can show a variety of abnormalities in patients with Fanconi anemia. Although non-specific, some of the features include radial ray anomalies of the thumb, absent thumb, or triphalangeal thumb. A [[skeletal survey]] can be done to identify all developmental defects involving bone. Care should be taken to ensure that radiation doses are limited in patients with Fanconi anemia, since the DNA damage response is impaired and these patients can develop cancers due to radiation exposure. Care should be taken to avoid unnecessary radiation in patients with a cancer predisposition. | |||
== X-ray== | |||
== | |||
Many of the congenital anomalies can be detected on imaging studies. These include: | Many of the congenital anomalies can be detected on imaging studies. These include: | ||
* '''Growth disturbances''': [[Intrauterine growth retardation]], [[short stature]], delayed ossification.<ref name="pmid108163983">{{cite journal| author=De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J| title=The clinical and radiological features of Fanconi's anaemia. | journal=Clin Radiol | year= 2000 | volume= 55 | issue= 5 | pages= 340-5 | pmid=10816398 | doi=10.1053/crad.2000.0445 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10816398 }}</ref> | |||
* '''Central nervous system''': [[Hydrocephalus]], [[single ventricle]], absent [[septum pellucidum]]/[[corpus callosum]], [[Vascular malformations of the brain|vascular malformations]], [[moyamoya]], [[Chiari malformation|Chiari malformations]]/absent septum pellucidum/[[corpus callosum]]. | |||
** '''Skull''': [[Microcephaly]], [[craniosynostosis]], [[micrognathia]], frontal bossing, small or absent [[external auditory canal]], absent tympanic membrane, [[microtia]], fused ossicles. | ** '''Skull''': [[Microcephaly]], [[craniosynostosis]], [[micrognathia]], frontal bossing, small or absent [[external auditory canal]], absent tympanic membrane, [[microtia]], fused ossicles. | ||
* '''Spine''': [[Spina bifida]], [[Klippel-Feil anomaly]], vertebral body anomalies, [[sacral agenesis]] or hypoplasia, [[kyphosis]], scoliosis.<ref name="pmid19622403">{{cite journal| author=Auerbach AD| title=Fanconi anemia and its diagnosis. | journal=Mutat Res | year= 2009 | volume= 668 | issue= 1-2 | pages= 4-10 | pmid=19622403 | doi=10.1016/j.mrfmmm.2009.01.013 | pmc=2742943 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19622403 }}</ref> | |||
* '''Radial ray anomalies''': Thenar hypoplasia; dislocation of the radial head; radioulnar synostosis; [[Absent radius|absence or hypoplasia of the radius]], scaphoid, trapezium, and/or thumb; floating thumb; bifid thumb; digitalized thumb; and abnormal thumb placement.<ref name="pmid108163982">{{cite journal| author=De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J| title=The clinical and radiological features of Fanconi's anaemia. | journal=Clin Radiol | year= 2000 | volume= 55 | issue= 5 | pages= 340-5 | pmid=10816398 | doi=10.1053/crad.2000.0445 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10816398 }}</ref> | |||
* '''Extremities (other)''': [[Brachydactyly]], [[arachnodactyly]] [[clubfoot]], dysplastic or absent ulna, humeral abnormalities, absent clavicles, [[Sprengel deformity]], [[Hip dysplasia|congenital hip dysplasia/dislocation]], [[Legg-Calvé-Perthes syndrome|Legg-Calve-Perthes disease]], leg length discrepancy, soft-tissue syndactylism of the toes, metatarsus varus, medial deviation of the toes, hammer toes. | |||
* '''Gastrointestinal''': [[Esophageal atresia]], [[tracheoesophageal fistula]], [[duodenal atresia]], duodenal web, [[Intestinal malrotation|malrotation]], foregut duplication cyst, [[anal atresia]]. [[Biliary atresia]], [[Annular pancreas|annular pancreas.]] | |||
* '''Renal anomalies''': Renal aplasia, [[horseshoe kidney]], low-lying kidney(s), renal ectopy, [[hydronephrosis]], hydroureter, urethral stenosis, reflux.<ref name="pmid10816398">{{cite journal| author=De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J| title=The clinical and radiological features of Fanconi's anaemia. | journal=Clin Radiol | year= 2000 | volume= 55 | issue= 5 | pages= 340-5 | pmid=10816398 | doi=10.1053/crad.2000.0445 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10816398 }}</ref> | |||
* '''Genital anomalies''': [[Hypogenitalism]], [[cryptorchidism]], [[hypospadias]], [[Bicornuate uterus|bicornate uterus]], aplasia or hypoplasia of vagina and uterus, [[Vaginal atresia|atresia of vagina]], hypoplasic uterus, hypoplastic/absent ovary. | |||
* '''Cardiopulmonary''': [[Patent ductus arteriosus]], [[ventricular septal defect]], [[Pulmonic Stenosis|pulmonic]] or [[aortic stenosis]], [[coarcation of the aorta]], [[double aortic arch]], [[cardiomyopathy]], [[tetralogy of Fallot]], [[pulmonary atresia]]. | |||
* '''Osteoporosis''': This can be visualized on X-ray to a certain extent, but a better test is dual-energy X-ray absorptiometry (DEXA). | |||
Latest revision as of 16:43, 5 May 2019
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American Roentgen Ray Society Images of Fanconi anemia x ray |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shyam Patel [2]
Overview
X-ray can show a variety of abnormalities in patients with Fanconi anemia. Although non-specific, some of the features include radial ray anomalies of the thumb, absent thumb, or triphalangeal thumb. A skeletal survey can be done to identify all developmental defects involving bone. Care should be taken to ensure that radiation doses are limited in patients with Fanconi anemia, since the DNA damage response is impaired and these patients can develop cancers due to radiation exposure. Care should be taken to avoid unnecessary radiation in patients with a cancer predisposition.
X-ray
Many of the congenital anomalies can be detected on imaging studies. These include:
- Growth disturbances: Intrauterine growth retardation, short stature, delayed ossification.[1]
- Central nervous system: Hydrocephalus, single ventricle, absent septum pellucidum/corpus callosum, vascular malformations, moyamoya, Chiari malformations/absent septum pellucidum/corpus callosum.
- Skull: Microcephaly, craniosynostosis, micrognathia, frontal bossing, small or absent external auditory canal, absent tympanic membrane, microtia, fused ossicles.
- Spine: Spina bifida, Klippel-Feil anomaly, vertebral body anomalies, sacral agenesis or hypoplasia, kyphosis, scoliosis.[2]
- Radial ray anomalies: Thenar hypoplasia; dislocation of the radial head; radioulnar synostosis; absence or hypoplasia of the radius, scaphoid, trapezium, and/or thumb; floating thumb; bifid thumb; digitalized thumb; and abnormal thumb placement.[3]
- Extremities (other): Brachydactyly, arachnodactyly clubfoot, dysplastic or absent ulna, humeral abnormalities, absent clavicles, Sprengel deformity, congenital hip dysplasia/dislocation, Legg-Calve-Perthes disease, leg length discrepancy, soft-tissue syndactylism of the toes, metatarsus varus, medial deviation of the toes, hammer toes.
- Gastrointestinal: Esophageal atresia, tracheoesophageal fistula, duodenal atresia, duodenal web, malrotation, foregut duplication cyst, anal atresia. Biliary atresia, annular pancreas.
- Renal anomalies: Renal aplasia, horseshoe kidney, low-lying kidney(s), renal ectopy, hydronephrosis, hydroureter, urethral stenosis, reflux.[4]
- Genital anomalies: Hypogenitalism, cryptorchidism, hypospadias, bicornate uterus, aplasia or hypoplasia of vagina and uterus, atresia of vagina, hypoplasic uterus, hypoplastic/absent ovary.
- Cardiopulmonary: Patent ductus arteriosus, ventricular septal defect, pulmonic or aortic stenosis, coarcation of the aorta, double aortic arch, cardiomyopathy, tetralogy of Fallot, pulmonary atresia.
- Osteoporosis: This can be visualized on X-ray to a certain extent, but a better test is dual-energy X-ray absorptiometry (DEXA).
Patient#1
Patient #2
References
- ↑ De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J (2000). "The clinical and radiological features of Fanconi's anaemia". Clin Radiol. 55 (5): 340–5. doi:10.1053/crad.2000.0445. PMID 10816398.
- ↑ Auerbach AD (2009). "Fanconi anemia and its diagnosis". Mutat Res. 668 (1–2): 4–10. doi:10.1016/j.mrfmmm.2009.01.013. PMC 2742943. PMID 19622403.
- ↑ De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J (2000). "The clinical and radiological features of Fanconi's anaemia". Clin Radiol. 55 (5): 340–5. doi:10.1053/crad.2000.0445. PMID 10816398.
- ↑ De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J (2000). "The clinical and radiological features of Fanconi's anaemia". Clin Radiol. 55 (5): 340–5. doi:10.1053/crad.2000.0445. PMID 10816398.