Kenny-Caffey syndrome: an Arab variant?
Authors: Sabry, MA1; Farag, TI2; Shaltout, AA3; Zaki, M4; Al-Mazidi, Z5; Abulhassan, SJ1; Al-Torki, N1; Quishawi, A4; Al Awadi, SA1
Source: Clinical Genetics, Volume 55, Number 1, January 1999 , pp. 44-49(6)
Publisher: Blackwell Publishing
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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 hypo-parathyroidism, 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.Keywords: dwarfism; episodic hypocalcemia; Kenny-Caffey syndrome
Document Type: Research article
DOI: 10.1034/j.1399-0004.1999.550108.x
Affiliations: 1: Kuwait Medical Genetics Centre, 2: Dalhousie University, Halifax, Canada 3: Pediatrics Department, Amiri Hospital, 4: Pediatrics Department, Farawaniya Hospital, 5: Paediatric Endocrinology Unit, Sabah Hospital, Kuwait, and
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