| pubmed-article:10066031 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10066031 | lifeskim:mentions | umls-concept:C0282540 | lld:lifeskim |
| pubmed-article:10066031 | lifeskim:mentions | umls-concept:C0265291 | lld:lifeskim |
| pubmed-article:10066031 | lifeskim:mentions | umls-concept:C0205419 | lld:lifeskim |
| pubmed-article:10066031 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:10066031 | pubmed:dateCreated | 1999-5-19 | lld:pubmed |
| pubmed-article:10066031 | 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. | lld:pubmed |
| pubmed-article:10066031 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10066031 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10066031 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10066031 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10066031 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:10066031 | pubmed:issn | 0009-9163 | lld:pubmed |
| pubmed-article:10066031 | pubmed:author | pubmed-author:ZakiMM | lld:pubmed |
| pubmed-article:10066031 | pubmed:author | pubmed-author:FaragT ITI | lld:pubmed |
| pubmed-article:10066031 | pubmed:author | pubmed-author:SabryM AMA | lld:pubmed |
| pubmed-article:10066031 | pubmed:author | pubmed-author:ShaltoutA AAA | lld:pubmed |
| pubmed-article:10066031 | pubmed:author | pubmed-author:Al AwadiS ASA | lld:pubmed |
| pubmed-article:10066031 | pubmed:author | pubmed-author:AbulhassanS... | lld:pubmed |
| pubmed-article:10066031 | pubmed:author | pubmed-author:Al-MazidiZZ | lld:pubmed |
| pubmed-article:10066031 | pubmed:author | pubmed-author:Al-TorkiNN | lld:pubmed |
| pubmed-article:10066031 | pubmed:author | pubmed-author:QuishawiAA | lld:pubmed |
| pubmed-article:10066031 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10066031 | pubmed:volume | 55 | lld:pubmed |
| pubmed-article:10066031 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10066031 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10066031 | pubmed:pagination | 44-9 | lld:pubmed |
| pubmed-article:10066031 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
| pubmed-article:10066031 | pubmed:meshHeading | pubmed-meshheading:10066031... | lld:pubmed |
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| pubmed-article:10066031 | pubmed:meshHeading | pubmed-meshheading:10066031... | lld:pubmed |
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| pubmed-article:10066031 | pubmed:meshHeading | pubmed-meshheading:10066031... | lld:pubmed |
| pubmed-article:10066031 | pubmed:year | 1999 | lld:pubmed |
| pubmed-article:10066031 | pubmed:articleTitle | Kenny-Caffey syndrome: an Arab variant? | lld:pubmed |
| pubmed-article:10066031 | pubmed:affiliation | Kuwait Medical Genetics Centre. john.wrycraft@dial.pipex.com | lld:pubmed |
| pubmed-article:10066031 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10066031 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:10066031 | pubmed:publicationType | Case Reports | lld:pubmed |
