Kenny-Caffey syndrome: an Arab variant?

We describe 2 unrelated Bedouin girls who met the criteria for the diagnosi s of Kenny-Caffey syndrome. The girls had some unusual features - microceph aly and psychomotor retardation - that distinguish the Renny-Caffey syndrom e profile in Arab children from the classical Kenny-Caffey syndrome phenoty pe characterized by macrocephaly and normal intelligence. The 2 girls did n ot harbor the 22q11 microdeletion (the hallmark of the DiGeorge cluster of diseases) that we previously reported in another Bedouin family with the Ke nny-Caffey syndrome (Sabry et al. J Med Genet 1998: 35(1): 31-36). This ind icates considerable genetic heterogeneity for this syndrome. We also review previously reported 44 Arab/Bedouin patients with the same profile of hypo parathyroidism, short stature, seizures, mental retardation and microcephal y. Our results suggest that these patients represent an Arab variant of Ken ny-Caffey syndrome with characteristic microcephaly and psychomotor retarda tion. We suggest that all patients with Kenny-Caffey syndrome should be inv estigated for the 22q11 microdeletion. Other possible genetic causes for th e Kenny-Caffey syndrome or its Arab variant include chromosome 10p abnormal ities.