Fanconi Anemia Patient With Bilaterally Hypoplastic Scapula and Unilateral Winging Associated With Scoliosis and Rib Abnormality

Abstract

Fanconi anemia is an autosomal recessive disease characterized by bone marrow failure, variable congenital physical abnormalities, and predisposition to hematologic malignancy and several solid tumors. The most frequently associated congenital malformations are those of the skeletal system, mainly radius and thumb. Herein, we report bilaterally hypoplastic scapula with unilateral winging associated with scoliosis and rib abnormality, a previously unreported skeletal abnormality in Fanconi anemia patients.

Scapula alata as presenting symptom of Fanconi anemia: A case for serendipity

“…We report a rare abnormality in a Fanconi anemia patient: scapula alata. A scapula alata was also described in one other case …”

“…However, scapula abnormalities are quite uncommonly reported. Only one other case of an abnormal scapula has been described in medical literature . The authors described a scapula alata with scoliosis and hypoplasia of the scapula.…”

“…Only one other case of an abnormal scapula has been described in medical literature. 4 The authors described a scapula alata with scoliosis and hypoplasia of the scapula. A scapula alata is either an extremely rare abnormality in Fanconi anemia or an independent abnormality, in which case patient A has comorbidity.…”

A 15-year-old girl with pancytopenia and congenital defects

“…Congenital malformations of the thumbs are variable and often bilateral 4. Abnormal male gonads formation, head, eyes, ear, genitourinary, gastrointestinal tract, cardiopulmonary, central nervous system can occur 15–7…”

Vertebral Anomalies in Siblings with Fanconi Anemia

“…It is characterized by defective DNA repair, leading to bone marrow failure and hematopoietic cancers as well as skeletal anomalies [1,2]. The incidence and character of vertebral column anomalies in FA is poorly understood, though there are rare reports of scoliosis and Klippel-Feil syndrome [3,4,5]. In a 1971 case report, Pochedly et al [6] described a case of a male infant with FA and Klippel-Feil syndrome, conicident findings later noted by McGaughran [3] who suggested a relationship of FA with vertebral anomalies.…”