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.

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