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We are reporting on 16 children, in 6 unrelated sibships, born to healthy, consanguineous parents of Bedouin ancestry. Eleven of them were assessed clinically. All presented with marked growth retardation, craniofacial anomalies, small hands and feet, hypocalcemia, hypoparathyroidism, 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 convulsions. All cases show absence of macrocephaly and early psychomotor retardation. The present cases confirm the presence of clinical variability and co firm autosomal recessive inheritance of Kenny-Caffey syndrome.

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Five Bedouin sibs are described with Meckel‐Gruber syndrome (MGS), an autosomal recessive disorder with multiple abnormalities. Each affected sib manifested only two of the three cardinal signs of MGS: occipital encephalocele and polycystic kidneys, lacking polydactyly. The phenotypic variability of the MGS pleiotropic gene is briefly discussed.

A severely malformed girl died 7 days after birth and was found to have de novo interstitial deletion of 1q (1q32----1q42). Clinical abnormalities included microcephaly, encephalocele, small eyes with unilateral esotropia, hypertelorism but small prominent nose, highly arched palate, micrognathia, abnormal cry, apparently abnormal low-set ears, short neck with low posterior hair line, narrow shoulders, congenital heart defect, hypoplastic nails, overlap of toes with flat feet, and single umbilical artery.