Source:http://linkedlifedata.com/resource/pubmed/id/10066031
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
1999-5-19
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
0009-9163
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
55
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
44-9
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| pubmed:dateRevised |
2011-11-17
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| pubmed:meshHeading |
pubmed-meshheading:10066031-Abnormalities, Multiple,
pubmed-meshheading:10066031-Arabs,
pubmed-meshheading:10066031-Bone and Bones,
pubmed-meshheading:10066031-Child,
pubmed-meshheading:10066031-Child, Preschool,
pubmed-meshheading:10066031-Chromosomes, Human, Pair 10,
pubmed-meshheading:10066031-Chromosomes, Human, Pair 22,
pubmed-meshheading:10066031-Developmental Disabilities,
pubmed-meshheading:10066031-Eye Abnormalities,
pubmed-meshheading:10066031-Female,
pubmed-meshheading:10066031-Gene Deletion,
pubmed-meshheading:10066031-Genetic Heterogeneity,
pubmed-meshheading:10066031-Humans,
pubmed-meshheading:10066031-Hypoparathyroidism,
pubmed-meshheading:10066031-Intellectual Disability,
pubmed-meshheading:10066031-Microcephaly,
pubmed-meshheading:10066031-Psychomotor Disorders,
pubmed-meshheading:10066031-Seizures,
pubmed-meshheading:10066031-Syndrome
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
Kenny-Caffey syndrome: an Arab variant?
|
| pubmed:affiliation |
Kuwait Medical Genetics Centre. john.wrycraft@dial.pipex.com
|
| pubmed:publicationType |
Journal Article,
Review,
Case Reports
|