Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait
We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and h...
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| Veröffentlicht in: | Eastern Mediterranean health journal 2009-03, Vol.15 (2), p.345-352 |
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| creator | Naguib, K K Gouda, S A Elshafey, A Mohammed, F Bastaki, L Azab, A S Alawadi, S A |
| description | We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers. |
| doi_str_mv | 10.26719/2009.15.2.345 |
| format | Article |
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Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. 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Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers.</description><subject>Abnormalities, Multiple - epidemiology</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Chromosome Deletion</subject><subject>Consanguinity</subject><subject>Cytogenetic Analysis</subject><subject>Fetal Growth Retardation - epidemiology</subject><subject>Fetal Growth Retardation - genetics</subject><subject>Genes, Recessive - genetics</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Hypocalcemia - epidemiology</subject><subject>Hypocalcemia - genetics</subject><subject>Hypoparathyroidism - epidemiology</subject><subject>Hypoparathyroidism - genetics</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant, Newborn</subject><subject>Intellectual Disability - epidemiology</subject><subject>Intellectual Disability - genetics</subject><subject>Kuwait - epidemiology</subject><subject>Microcephaly - epidemiology</subject><subject>Microcephaly - genetics</subject><subject>Molecular Chaperones - genetics</subject><subject>Mutation - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Single-Stranded Conformational</subject><subject>Syndrome</subject><issn>1020-3397</issn><issn>1687-1634</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkE1Lw0AQhhdRrFavHmVP3pLu7EeS9SbFL1oQrJ6XyX5AapvUbILk3xtt0dMMw_O-MA8hV8BSnuWgZ5wxnYJKeSqkOiJnkBV5ApmQx-POOEuE0PmEnMe4ZowXheSnZAJaKakLOCOvK6zX6JIVfmBX0TjUrm22frbwdT0kcwzBD39X2g07T-GWIo1d7wbaBMqBWow-0qqmi_4Lq-6CnATcRH95mFPy_nD_Nn9Kli-Pz_O7ZWK5LFRSOBR5yQpg4HK0Vo7_BCXQaREyRCcBS50FDZahD84jZkwwy7QvOSgHYkpu9r27tvnsfezMtorWbzZY-6aPJsslL0CwEUz3oG2bGFsfzK6tttgOBpj5tWh-LBpQhpvR4hi4PjT35da7f_ygTXwDuV1r9g</recordid><startdate>200903</startdate><enddate>200903</enddate><creator>Naguib, K K</creator><creator>Gouda, S A</creator><creator>Elshafey, A</creator><creator>Mohammed, F</creator><creator>Bastaki, L</creator><creator>Azab, A S</creator><creator>Alawadi, S A</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200903</creationdate><title>Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait</title><author>Naguib, K K ; Gouda, S A ; Elshafey, A ; Mohammed, F ; Bastaki, L ; Azab, A S ; Alawadi, S A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2485-8da37b08101d7acc4267f53ad93f6aad41ab96f91c0aefdeaa6030c09eb215d13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Abnormalities, Multiple - epidemiology</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Chromosome Deletion</topic><topic>Consanguinity</topic><topic>Cytogenetic Analysis</topic><topic>Fetal Growth Retardation - epidemiology</topic><topic>Fetal Growth Retardation - genetics</topic><topic>Genes, Recessive - genetics</topic><topic>Heterozygote</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Hypocalcemia - epidemiology</topic><topic>Hypocalcemia - genetics</topic><topic>Hypoparathyroidism - epidemiology</topic><topic>Hypoparathyroidism - genetics</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant, Newborn</topic><topic>Intellectual Disability - epidemiology</topic><topic>Intellectual Disability - genetics</topic><topic>Kuwait - epidemiology</topic><topic>Microcephaly - epidemiology</topic><topic>Microcephaly - genetics</topic><topic>Molecular Chaperones - genetics</topic><topic>Mutation - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Single-Stranded Conformational</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Naguib, K K</creatorcontrib><creatorcontrib>Gouda, S A</creatorcontrib><creatorcontrib>Elshafey, A</creatorcontrib><creatorcontrib>Mohammed, F</creatorcontrib><creatorcontrib>Bastaki, L</creatorcontrib><creatorcontrib>Azab, A S</creatorcontrib><creatorcontrib>Alawadi, S A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Eastern Mediterranean health journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Naguib, K K</au><au>Gouda, S A</au><au>Elshafey, A</au><au>Mohammed, F</au><au>Bastaki, L</au><au>Azab, A S</au><au>Alawadi, S A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait</atitle><jtitle>Eastern Mediterranean health journal</jtitle><addtitle>East Mediterr Health J</addtitle><date>2009-03</date><risdate>2009</risdate><volume>15</volume><issue>2</issue><spage>345</spage><epage>352</epage><pages>345-352</pages><issn>1020-3397</issn><eissn>1687-1634</eissn><abstract>We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers.</abstract><cop>Egypt</cop><pmid>19554981</pmid><doi>10.26719/2009.15.2.345</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Eastern Mediterranean health journal, 2009-03, Vol.15 (2), p.345-352 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Abnormalities, Multiple - epidemiology Abnormalities, Multiple - genetics Chromosome Deletion Consanguinity Cytogenetic Analysis Fetal Growth Retardation - epidemiology Fetal Growth Retardation - genetics Genes, Recessive - genetics Heterozygote Homozygote Humans Hypocalcemia - epidemiology Hypocalcemia - genetics Hypoparathyroidism - epidemiology Hypoparathyroidism - genetics In Situ Hybridization, Fluorescence Infant, Newborn Intellectual Disability - epidemiology Intellectual Disability - genetics Kuwait - epidemiology Microcephaly - epidemiology Microcephaly - genetics Molecular Chaperones - genetics Mutation - genetics Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Syndrome |
| title | Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait |
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