Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature.
Identifieur interne : 003950 ( PubMed/Corpus ); précédent : 003949; suivant : 003951Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature.
Auteurs : Adel A. Mahmoud ; Maysara M. Abdul-Aziz ; Saeed M. Al-Tala ; Fatimah O. AhmedSource :
- Neurosciences (Riyadh, Saudi Arabia) [ 1319-6138 ] ; 2006.
Abstract
Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly under diagnosed. We could find less than 25 cases reported in the literature. Patients were initially categorized as having either microcephaly and lymphedema or microcephaly and chorioretinal dysplasia. The existence of the 3 criteria in the same patients is reported. Other features such as mental retardation and short stature were noticed in other patients. In the Pediatric Department of the Armed Forces Hospital Southern Region, Kingdom of Saudi Arabia, we report a case with all clinical manifestations described in the above-related syndromes. The girl has microcephaly, retinal dysplasia, pedal edema, short stature, mental retardation, and some other dysmorphic features. The parents are not relatives, but both have retinal dysplastic changes. This report documents the existence of all different features reported in the literature in one patient, suggesting that different clinical features of reported patients are possibly the variable expression of the same syndrome.
PubMed: 22266624
Links to Exploration step
pubmed:22266624Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature.</title><author><name sortKey="Mahmoud, Adel A" sort="Mahmoud, Adel A" uniqKey="Mahmoud A" first="Adel A" last="Mahmoud">Adel A. Mahmoud</name><affiliation><nlm:affiliation>Neuroscience Department, Division of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. Tel. +966 (1) 4656666 Ext. 1433. Fax. +966 (1) 4656666 Ext. 1391. E-mail: amahmoud2000@hotmail.com / amahmoud10@yahoo.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Abdul Aziz, Maysara M" sort="Abdul Aziz, Maysara M" uniqKey="Abdul Aziz M" first="Maysara M" last="Abdul-Aziz">Maysara M. Abdul-Aziz</name></author><author><name sortKey="Al Tala, Saeed M" sort="Al Tala, Saeed M" uniqKey="Al Tala S" first="Saeed M" last="Al-Tala">Saeed M. Al-Tala</name></author><author><name sortKey="Ahmed, Fatimah O" sort="Ahmed, Fatimah O" uniqKey="Ahmed F" first="Fatimah O" last="Ahmed">Fatimah O. Ahmed</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="RBID">pubmed:22266624</idno><idno type="pmid">22266624</idno><idno type="wicri:Area/PubMed/Corpus">003950</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003950</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature.</title><author><name sortKey="Mahmoud, Adel A" sort="Mahmoud, Adel A" uniqKey="Mahmoud A" first="Adel A" last="Mahmoud">Adel A. Mahmoud</name><affiliation><nlm:affiliation>Neuroscience Department, Division of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. Tel. +966 (1) 4656666 Ext. 1433. Fax. +966 (1) 4656666 Ext. 1391. E-mail: amahmoud2000@hotmail.com / amahmoud10@yahoo.ca.</nlm:affiliation></affiliation></author><author><name sortKey="Abdul Aziz, Maysara M" sort="Abdul Aziz, Maysara M" uniqKey="Abdul Aziz M" first="Maysara M" last="Abdul-Aziz">Maysara M. Abdul-Aziz</name></author><author><name sortKey="Al Tala, Saeed M" sort="Al Tala, Saeed M" uniqKey="Al Tala S" first="Saeed M" last="Al-Tala">Saeed M. Al-Tala</name></author><author><name sortKey="Ahmed, Fatimah O" sort="Ahmed, Fatimah O" uniqKey="Ahmed F" first="Fatimah O" last="Ahmed">Fatimah O. Ahmed</name></author></analytic><series><title level="j">Neurosciences (Riyadh, Saudi Arabia)</title><idno type="ISSN">1319-6138</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly under diagnosed. We could find less than 25 cases reported in the literature. Patients were initially categorized as having either microcephaly and lymphedema or microcephaly and chorioretinal dysplasia. The existence of the 3 criteria in the same patients is reported. Other features such as mental retardation and short stature were noticed in other patients. In the Pediatric Department of the Armed Forces Hospital Southern Region, Kingdom of Saudi Arabia, we report a case with all clinical manifestations described in the above-related syndromes. The girl has microcephaly, retinal dysplasia, pedal edema, short stature, mental retardation, and some other dysmorphic features. The parents are not relatives, but both have retinal dysplastic changes. This report documents the existence of all different features reported in the literature in one patient, suggesting that different clinical features of reported patients are possibly the variable expression of the same syndrome.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">22266624</PMID><DateCreated><Year>2012</Year><Month>01</Month><Day>23</Day></DateCreated><DateCompleted><Year>2012</Year><Month>10</Month><Day>02</Day></DateCompleted><DateRevised><Year>2012</Year><Month>01</Month><Day>23</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1319-6138</ISSN><JournalIssue CitedMedium="Print"><Volume>11</Volume><Issue>3</Issue><PubDate><Year>2006</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Neurosciences (Riyadh, Saudi Arabia)</Title><ISOAbbreviation>Neurosciences (Riyadh)</ISOAbbreviation></Journal><ArticleTitle>Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature.</ArticleTitle><Pagination><MedlinePgn>210-2</MedlinePgn></Pagination><Abstract><AbstractText>Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly under diagnosed. We could find less than 25 cases reported in the literature. Patients were initially categorized as having either microcephaly and lymphedema or microcephaly and chorioretinal dysplasia. The existence of the 3 criteria in the same patients is reported. Other features such as mental retardation and short stature were noticed in other patients. In the Pediatric Department of the Armed Forces Hospital Southern Region, Kingdom of Saudi Arabia, we report a case with all clinical manifestations described in the above-related syndromes. The girl has microcephaly, retinal dysplasia, pedal edema, short stature, mental retardation, and some other dysmorphic features. The parents are not relatives, but both have retinal dysplastic changes. This report documents the existence of all different features reported in the literature in one patient, suggesting that different clinical features of reported patients are possibly the variable expression of the same syndrome.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mahmoud</LastName><ForeName>Adel A</ForeName><Initials>AA</Initials><AffiliationInfo><Affiliation>Neuroscience Department, Division of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. Tel. +966 (1) 4656666 Ext. 1433. Fax. +966 (1) 4656666 Ext. 1391. E-mail: amahmoud2000@hotmail.com / amahmoud10@yahoo.ca.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Abdul-Aziz</LastName><ForeName>Maysara M</ForeName><Initials>MM</Initials></Author><Author ValidYN="Y"><LastName>Al-Tala</LastName><ForeName>Saeed M</ForeName><Initials>SM</Initials></Author><Author ValidYN="Y"><LastName>Ahmed</LastName><ForeName>Fatimah O</ForeName><Initials>FO</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>Saudi Arabia</Country><MedlineTA>Neurosciences (Riyadh)</MedlineTA><NlmUniqueID>101252453</NlmUniqueID><ISSNLinking>1319-6138</ISSNLinking></MedlineJournalInfo></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2012</Year><Month>1</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>7</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>7</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">22266624</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003950 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 003950 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= PubMed
|étape= Corpus
|type= RBID
|clé= pubmed:22266624
|texte= Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:22266624" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |