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** '''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> | ** '''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> | ** '''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]], 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. | ** '''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.]] | ** '''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> | ** '''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> | ||
Revision as of 18:53, 26 June 2018
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Fanconi anemia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Fanconi anemia x ray On the Web |
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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:
Overview
Although non-specific, these are one of the best described features and include:
- Radial ray anomalies: including absent thumb
- triphalangeal thumb
Skeletal survey
Perform a skeletal survey to identify all developmental defects involving bone. Keep in mind that radiation doses should be limited in patients with Fanconi anemia. Care should be taken to avoid unnecessary radiation in patients with a cancer predisposition.
X rays
- 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:
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.