Loading…
An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins
Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late‐closing...
Saved in:
Published in: | Clinical genetics 1997-01, Vol.51 (1), p.61-64 |
---|---|
Main Authors: | , , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
cited_by | cdi_FETCH-LOGICAL-c4631-c64a364fa65667cb7722ae42892827410e76c054b4d76d97b9c6207acc7e2f163 |
---|---|
cites | cdi_FETCH-LOGICAL-c4631-c64a364fa65667cb7722ae42892827410e76c054b4d76d97b9c6207acc7e2f163 |
container_end_page | 64 |
container_issue | 1 |
container_start_page | 61 |
container_title | Clinical genetics |
container_volume | 51 |
creator | Dundar, Munis Demiryilmaz, Fatma Demiryilmaz, Ilhan Kumandas, Sefer Erkilic, Kuddusi Kendirci, Mustafa Tuncel, Mehmet Ozyazgan, Isilay Tolmie, John L |
description | Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late‐closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect. |
doi_str_mv | 10.1111/j.1399-0004.1997.tb02417.x |
format | article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_78907703</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>78907703</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4631-c64a364fa65667cb7722ae42892827410e76c054b4d76d97b9c6207acc7e2f163</originalsourceid><addsrcrecordid>eNqVkM1K9DAUhoMoOv5cghBEvl1rkqZJI7iQwT8Q3KjbkKYpdmwbzWn9nJ2X4DV6JWaYMnuzOYT3OTknD0InlKQ0nrNFSjOlEkIIT6lSMh1KwjiV6ecWmm2ibTSLRSWKimwP7QMs4jWTudpFu4oUXGXFDD1f9tiMgwffmRYHZx1A8-GwqarRDq7Cw8vYlT9f37YdS1x7P2BY9lXwncO-BBc-ItP0-HEMrw28YOtHaHo4RDu1acEdTfUAPV1fPc5vk_uHm7v55X1iuchoYgU3meC1EbkQ0pZSMmYcZ4ViBZOcEieFJTkveSVFpWSprGBEGmulY3X81wH6t373Lfj30cGguwasa1vTu7iJloUiUpIsgudr0AYPEFyt30LTmbDUlOiVVL3QK3N6ZU6vpOpJqv6MzcfTlLHsXLVpnSzG_HTKDVjT1sH0toENxnLF84JF7GKN_W9at_zDAnp-cyVo9guazpS6</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>78907703</pqid></control><display><type>article</type><title>An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins</title><source>Wiley-Blackwell Read & Publish Collection</source><creator>Dundar, Munis ; Demiryilmaz, Fatma ; Demiryilmaz, Ilhan ; Kumandas, Sefer ; Erkilic, Kuddusi ; Kendirci, Mustafa ; Tuncel, Mehmet ; Ozyazgan, Isilay ; Tolmie, John L</creator><creatorcontrib>Dundar, Munis ; Demiryilmaz, Fatma ; Demiryilmaz, Ilhan ; Kumandas, Sefer ; Erkilic, Kuddusi ; Kendirci, Mustafa ; Tuncel, Mehmet ; Ozyazgan, Isilay ; Tolmie, John L</creatorcontrib><description>Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late‐closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.1997.tb02417.x</identifier><identifier>PMID: 9084938</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Abnormalities, Multiple - genetics ; adducted thumbyy ; Adult ; Biological and medical sciences ; Child, Preschool ; Chromosome Aberrations - genetics ; Chromosome Disorders ; club foot ; Complex syndromes ; Consanguinity ; eye abnormality ; Face - abnormalities ; Female ; Foot Deformities, Congenital - genetics ; Genes, Recessive ; Humans ; Hypertelorism - genetics ; Infant ; Infant, Newborn ; Male ; Medical genetics ; Medical sciences ; mental handicap ; Pregnancy ; Psychomotor Disorders - genetics ; Thumb - abnormalities ; Turkey</subject><ispartof>Clinical genetics, 1997-01, Vol.51 (1), p.61-64</ispartof><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4631-c64a364fa65667cb7722ae42892827410e76c054b4d76d97b9c6207acc7e2f163</citedby><cites>FETCH-LOGICAL-c4631-c64a364fa65667cb7722ae42892827410e76c054b4d76d97b9c6207acc7e2f163</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2594582$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9084938$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dundar, Munis</creatorcontrib><creatorcontrib>Demiryilmaz, Fatma</creatorcontrib><creatorcontrib>Demiryilmaz, Ilhan</creatorcontrib><creatorcontrib>Kumandas, Sefer</creatorcontrib><creatorcontrib>Erkilic, Kuddusi</creatorcontrib><creatorcontrib>Kendirci, Mustafa</creatorcontrib><creatorcontrib>Tuncel, Mehmet</creatorcontrib><creatorcontrib>Ozyazgan, Isilay</creatorcontrib><creatorcontrib>Tolmie, John L</creatorcontrib><title>An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late‐closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.</description><subject>Abnormalities, Multiple - genetics</subject><subject>adducted thumbyy</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Child, Preschool</subject><subject>Chromosome Aberrations - genetics</subject><subject>Chromosome Disorders</subject><subject>club foot</subject><subject>Complex syndromes</subject><subject>Consanguinity</subject><subject>eye abnormality</subject><subject>Face - abnormalities</subject><subject>Female</subject><subject>Foot Deformities, Congenital - genetics</subject><subject>Genes, Recessive</subject><subject>Humans</subject><subject>Hypertelorism - genetics</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>mental handicap</subject><subject>Pregnancy</subject><subject>Psychomotor Disorders - genetics</subject><subject>Thumb - abnormalities</subject><subject>Turkey</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><recordid>eNqVkM1K9DAUhoMoOv5cghBEvl1rkqZJI7iQwT8Q3KjbkKYpdmwbzWn9nJ2X4DV6JWaYMnuzOYT3OTknD0InlKQ0nrNFSjOlEkIIT6lSMh1KwjiV6ecWmm2ibTSLRSWKimwP7QMs4jWTudpFu4oUXGXFDD1f9tiMgwffmRYHZx1A8-GwqarRDq7Cw8vYlT9f37YdS1x7P2BY9lXwncO-BBc-ItP0-HEMrw28YOtHaHo4RDu1acEdTfUAPV1fPc5vk_uHm7v55X1iuchoYgU3meC1EbkQ0pZSMmYcZ4ViBZOcEieFJTkveSVFpWSprGBEGmulY3X81wH6t373Lfj30cGguwasa1vTu7iJloUiUpIsgudr0AYPEFyt30LTmbDUlOiVVL3QK3N6ZU6vpOpJqv6MzcfTlLHsXLVpnSzG_HTKDVjT1sH0toENxnLF84JF7GKN_W9at_zDAnp-cyVo9guazpS6</recordid><startdate>199701</startdate><enddate>199701</enddate><creator>Dundar, Munis</creator><creator>Demiryilmaz, Fatma</creator><creator>Demiryilmaz, Ilhan</creator><creator>Kumandas, Sefer</creator><creator>Erkilic, Kuddusi</creator><creator>Kendirci, Mustafa</creator><creator>Tuncel, Mehmet</creator><creator>Ozyazgan, Isilay</creator><creator>Tolmie, John L</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><scope>IQODW</scope><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>199701</creationdate><title>An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins</title><author>Dundar, Munis ; Demiryilmaz, Fatma ; Demiryilmaz, Ilhan ; Kumandas, Sefer ; Erkilic, Kuddusi ; Kendirci, Mustafa ; Tuncel, Mehmet ; Ozyazgan, Isilay ; Tolmie, John L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4631-c64a364fa65667cb7722ae42892827410e76c054b4d76d97b9c6207acc7e2f163</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>adducted thumbyy</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Child, Preschool</topic><topic>Chromosome Aberrations - genetics</topic><topic>Chromosome Disorders</topic><topic>club foot</topic><topic>Complex syndromes</topic><topic>Consanguinity</topic><topic>eye abnormality</topic><topic>Face - abnormalities</topic><topic>Female</topic><topic>Foot Deformities, Congenital - genetics</topic><topic>Genes, Recessive</topic><topic>Humans</topic><topic>Hypertelorism - genetics</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>mental handicap</topic><topic>Pregnancy</topic><topic>Psychomotor Disorders - genetics</topic><topic>Thumb - abnormalities</topic><topic>Turkey</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dundar, Munis</creatorcontrib><creatorcontrib>Demiryilmaz, Fatma</creatorcontrib><creatorcontrib>Demiryilmaz, Ilhan</creatorcontrib><creatorcontrib>Kumandas, Sefer</creatorcontrib><creatorcontrib>Erkilic, Kuddusi</creatorcontrib><creatorcontrib>Kendirci, Mustafa</creatorcontrib><creatorcontrib>Tuncel, Mehmet</creatorcontrib><creatorcontrib>Ozyazgan, Isilay</creatorcontrib><creatorcontrib>Tolmie, John L</creatorcontrib><collection>Pascal-Francis</collection><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>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dundar, Munis</au><au>Demiryilmaz, Fatma</au><au>Demiryilmaz, Ilhan</au><au>Kumandas, Sefer</au><au>Erkilic, Kuddusi</au><au>Kendirci, Mustafa</au><au>Tuncel, Mehmet</au><au>Ozyazgan, Isilay</au><au>Tolmie, John L</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>1997-01</date><risdate>1997</risdate><volume>51</volume><issue>1</issue><spage>61</spage><epage>64</epage><pages>61-64</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late‐closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>9084938</pmid><doi>10.1111/j.1399-0004.1997.tb02417.x</doi><tpages>4</tpages></addata></record> |
fulltext | fulltext |
identifier | ISSN: 0009-9163 |
ispartof | Clinical genetics, 1997-01, Vol.51 (1), p.61-64 |
issn | 0009-9163 1399-0004 |
language | eng |
recordid | cdi_proquest_miscellaneous_78907703 |
source | Wiley-Blackwell Read & Publish Collection |
subjects | Abnormalities, Multiple - genetics adducted thumbyy Adult Biological and medical sciences Child, Preschool Chromosome Aberrations - genetics Chromosome Disorders club foot Complex syndromes Consanguinity eye abnormality Face - abnormalities Female Foot Deformities, Congenital - genetics Genes, Recessive Humans Hypertelorism - genetics Infant Infant, Newborn Male Medical genetics Medical sciences mental handicap Pregnancy Psychomotor Disorders - genetics Thumb - abnormalities Turkey |
title | An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins |
url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-24T23%3A19%3A46IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=An%20autosomal%20recessive%20adducted%20thumb%E2%80%90club%20foot%20syndrome%20observed%20in%20Turkish%20cousins&rft.jtitle=Clinical%20genetics&rft.au=Dundar,%20Munis&rft.date=1997-01&rft.volume=51&rft.issue=1&rft.spage=61&rft.epage=64&rft.pages=61-64&rft.issn=0009-9163&rft.eissn=1399-0004&rft.coden=CLGNAY&rft_id=info:doi/10.1111/j.1399-0004.1997.tb02417.x&rft_dat=%3Cproquest_cross%3E78907703%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c4631-c64a364fa65667cb7722ae42892827410e76c054b4d76d97b9c6207acc7e2f163%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=78907703&rft_id=info:pmid/9084938&rfr_iscdi=true |