Kenny-Caffey syndrome: an Arab variant?

Abstract

We describe 2 unrelated Bedouin girls who met the criteria for the diagnosis of Kenny-Caffey syndrome. The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence. The 2 girls did not harbor the 22q11 microdeletion (the hallmark of the DiGeorge cluster of diseases) that we previously reported in another Bedouin family with the Kenny-Caffey syndrome (Sabry et al. J Med Genet 1998: 35(1): 31-36). This indicates considerable genetic heterogeneity for this syndrome. We also review previously reported 44 Arab/Bedouin patients with the same profile of hypoparathyroidism, short stature, seizures, mental retardation and microcephaly. Our results suggest that these patients represent an Arab variant of Kenny-Caffey syndrome with characteristic microcephaly and psychomotor retardation. We suggest that all patients with Kenny-Caffey syndrome should be investigated for the 22q11 microdeletion. Other possible genetic causes for the Kenny-Caffey syndrome or its Arab variant include chromosome 10p abnormalities.

• Authors: M A Sabry, T I Farag, A A Shaltout, M Zaki, Z Al-Mazidi, S J Abulhassan, N Al-Torki, A Quishawi, S A Al Awadi
• Journal: Clinical genetics (Clin Genet) Vol. 55 Issue 1 Pg. 44-9 (Jan 1999) ISSN: 0009-9163 [Print] Denmark
• PMID: 10066031 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Abnormalities, Multiple (diagnosis)
• Arabs
• Bone and Bones (abnormalities)
• Child
• Child, Preschool
• Chromosomes, Human, Pair 10 (genetics)
• Chromosomes, Human, Pair 22 (genetics)
• Developmental Disabilities (genetics)
• Eye Abnormalities (genetics)
• Female
• Gene Deletion
• Genetic Heterogeneity
• Humans
• Hypoparathyroidism (genetics)
• Intellectual Disability (genetics)
• Microcephaly (genetics)
• Psychomotor Disorders (genetics)
• Seizures (genetics)
• Syndrome