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Picture of the Month

Sydney S. Gellis, MD; Murray Feingold, MD; Daniel Miller, MD
Am J Dis Child. 1978;132(5):519-520. doi:10.1001/archpedi.1978.02120300079017.
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Denouement and Discussion 

Nager's Syndrome (Nager's Acrofacial Dysostosis) 

Manifestations  Most of the facial features are similar to those present in the Treacher Collins' syndrome, namely, antimongoloid slant of the palpebral fissures, hypoplastic zygomatic arches, coloboma of the eyelid (less common than in Treacher Collins' syndrome), malocclusion, and dysplastic ears. Frequently, there is a defect of the auditory canal, with or without a conductive hearing loss. A high arched or cleft palate (more common than in Treacher Collins' syndrome) may also be present. In addition to the facial anomalies and in contrast to Treacher Collins' syndrome, there are upper limb defects that consist mainly of varying degrees of preaxial (radial side) hypoplasia. The thumb may be hypoplastic or absent and the radius may also be absent, hypoplastic, or fused with the ulna. The Robin anomaly, associated with feeding difficulties and airway problems, including death by asphyxia, is not uncommon. Poor growth,


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