Nager Syndrome Does Not Preclude Organ Donation

Michele Molinari

doi:10.15226/2376-4570/1/1/00107

Abstract

Nager Syndrome is characterized by craniofacial and upper limb anomalies. The majority of patients are affected by sporadic disease. Yet, familial cases have been reported where patients are affected by mutations in SF3B4 gene or express 3p14 common fragile site. Aberrations in the first, second branchial arches and limb buds are responsible for the phenotypic presentations [1,2]. The diagnostic features of NS can be categorized into craniofacial, limb and skeletal anomalies that give these patients an atypical appearance. Hallmark of the facial findings are: down slanting palpebral fissures, malar and mandibular hypoplasia, high nasal bridge, micrognathia, external ear anomalies, and cleft palate. Upper limb deformities include thumb anomalies, radial defect and radioulnar synostosis and axial skeletal anomalies with short stature [3]. In addition, other features that have been less often identified in NS are internal organ anomalies associated with cardiovascular, gastrointestinal, genitourinary and central nervous systems [4]. To our knowledge, no previous reports of patients with Nager Syndrome (NS) and solid organ donation have been described in the literature.

Highlights

Nager Syndrome is characterized by craniofacial and upper limb anomalies
Nager Syndrome (NS) is an extremely rare disorder described by Nager and de Reynier in 1948 [7]
In addition to various external and internal organ anomalies might be the reason for the lack of reports of NS patients becoming solid organ donors

Summary

Background

Nager Syndrome is characterized by craniofacial and upper limb anomalies. The majority of patients are affected by sporadic disease. Familial cases have been reported where patients are affected by mutations in SF3B4 gene or express 3p14 common fragile site. The diagnostic features of NS can be categorized into craniofacial, limb and skeletal anomalies that give these patients an atypical appearance. Upper limb deformities include thumb anomalies, radial defect and radioulnar synostosis and axial skeletal anomalies with short stature [3]. Other features that have been less often identified in NS are internal organ anomalies associated with cardiovascular, gastrointestinal, genitourinary and central nervous systems [4]. No previous reports of patients with Nager Syndrome (NS) and solid organ donation have been described in the literature

Case Presentation

Differential Diagnosis

Discussion

Left Kidney Cr