Kenny-Caffey syndrome: an Arab variant?
| Autor: | S. A. Al Awadi, S J Abulhassan, T I Farag, Z Al-Mazidi, N. A. Al-Torki, M. Zaki, A Quishawi, A A Shaltout, Mohamed Sabry |
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| Rok vydání: | 1999 |
| Předmět: |
medicine.medical_specialty
Pediatrics Microcephaly Hypoparathyroidism Chromosomes Human Pair 22 Developmental Disabilities Kenny-Caffey Syndrome Short stature Bone and Bones Genetic Heterogeneity Seizures Internal medicine Intellectual Disability Intellectual disability Genetics medicine Humans Abnormalities Multiple Eye Abnormalities Child Genetics (clinical) Psychomotor retardation Genetic heterogeneity business.industry Chromosomes Human Pair 10 Macrocephaly Syndrome medicine.disease Arabs Endocrinology Child Preschool Female medicine.symptom Psychomotor Disorders business Psychomotor disorder Gene Deletion |
| Zdroj: | Clinical genetics. 55(1) |
| ISSN: | 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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