Scapula alata as presenting symptom of Fanconi anemia: A cas
Fanconi anemia is a recessive genetic disorder with a wide range of presenting symptoms, from multiple congenital defects to exclusively pancytopenia. Here is a novel presentation in a 7‐year‐old girl, with scapula alata, retrospectively congenital, and her 5‐year‐old brother, subsequently diagnosed. The diagnosis was made following an unexpected course.

Patient A, a 7‐year‐old‐girl was referred by her general practitioner with a scapula alata. Her medical history shows an extensive evaluation in an academic hospital within the first week after birth, following the discovery of a duodenal web, for which she was operated. She also had other anomalies: She was microcephalic, had a clubbed foot, webbed neck, microphthalmus, and epicanthus.

A clinical geneticist examined her and laboratory investigations revealed a normal 46 XX karyogram. There were no signs of pancytopenia in her blood count. No specific genetic diagnosis was made.
At 2 years of age, she was referred to an ENT‐specialist because her parents and kindergarten teacher suspected hearing problems. A right‐sided conduction deficit was noted, and she received a hearing aid.

Read more: https://onlinelibrary.wiley.com/doi/10.1002/ccr3.2323
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