KENNY-CAFFEY-SYNDROME IN 6 BEDOUIN SIBSHIPS - AUTOSOMAL RECESSIVE INHERITANCE IS CONFIRMED

We are reporting on 16 children, in 6 unrelated sibships, born to heal thy, consanguineous parents of Bedouin ancestry, Eleven of them were a ssessed clinically, All presented with marked growth retardation, cran iofacial anomalies, small hands and feet, hypocalcemia, hypoparathyroi dism, radiological evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull, There was a history of 6 affected sibs dying in infancy with hypocalcemic convuls ions. All cases show absence of macrocephaly: and early psychomotor re tardation, The present cases confirm the presence of clinical variabil ity and cc firm autosomal recessive inheritance of Kenny-Caffey syndro me. (C) 1997 Wiley-Liss, Inc.