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Fanconi's Anemia
5%
165/3184
Holt-Oram syndrome
4%
132/3184
VATER syndrome
3%
94/3184
VACTERL syndrome
108/3184
Osteogenesis Imperfecta
84%
2670/3184
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The clinical presentation is consistent with radial longitudinal deficiency, also known as "radial clubhand", which is associated with all of the listed conditions except for osteogenesis imperfecta. Maschke et al report "radial longitudinal deficiency encompasses a spectrum of upper limb dysplasias and hypoplasias. The clinical presentation of the involved upper limb is often more obvious than the potentially life-threatening associated systemic conditions. All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi’s anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association."
3.9
(18)
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