Nager's acrofacial dysostosis. Case report and review of the literature

Nager Syndrome Does Not Preclude Organ Donation

“…Aplastic or dystopic kidneys, duplicated ureters, external genital hypoplasia and vesicoureteral reflux may be responsible for dilation of renal pelvis and calyces with interruption of parenchymal architecture resulting in chronic renal insufficiency [12]. Other internal organ anomalies are uterus duplex and atrophic thymus [13]. The patient presented here had characteristic clinical findings of NS.…”

Otologic and audiologic features of Nager acrofacial dysostosis

“…Friedman advocated early tracheotomy due to the significant challenges involved in intubating newborns with Nager syndrome [10]. Danziger et al's review of the literature in 1990 identified 35 patients with Nager acrofacial dysostosis [7]. Sixty-three percent were female, with 80% alive at the time of their reports.…”

“…The difficulties with speech and language acquisition in this population are well described [5,7]. Vocalization is often challenged by the presence of a tracheotomy, articulation is distorted by oral crowding due of micrognathia, and auditory reception is compromised by significant conductive hearing losses.…”

“…Because higher levels of function have been demonstrated with early and aggressive therapy, maximal stimulation has been recommended [9]. Use of a multidisciplinary team consisting of pediatrics, otolaryngology, plastic surgery, dentistry, orthopedic surgery, psychology, genetics, audiology, and speech pathology has been advocated to comprehensively manage this challenging population [7,9].…”

“…Evaluations of the inner ear have consistently demonstrated normal anatomy [5]. Although pure sensorineural hearing loss is not associated with this syndrome, mixed hearing loss has been occasionally noted [7].…”