Selected physical abnormalities seen in ribosomopathies. (A) Left panel: Patient with DBA, illustrating the characteristic craniofacial abnormalities (courtesy of J. Lipton). Note the absent lower eyelashes, deformed external ears, and micrognathia. Second panel: An example of the triphalangeal thumb seen in DBA patients (courtesy of E. Atsidaftos and E. Muir). First panel: Reprinted from Lipton and Ellis⁹  with permission. (B) These panels illustrate the diagnostic triad of DKC, including dystrophic fingernails, lacy/reticular pigmentation on neck and trunk, and oral leukoplakia (courtesy of B. Alter). Reprinted from Savage and Alter¹⁰  with permission. (C) The craniofacial abnormalities of a patient with TCS are illustrated (courtesy of M. R. Passos Bueno). Note the down slanting palpebral fissures, malar and maxillary hypoplasia, and malformation of the ears. Reprinted from Passos-Bueno et al¹¹  with permission.