Al-Awadi Raas Rothschild Syndrom - Versionsgeschichte

Penarc am 22. Oktober 2021 um 18:08 Uhr

2021-10-22T18:08:18Z

← Nächstältere Version		Version vom 22. Oktober 2021, 18:08 Uhr
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	\| bgcolor="#dfdfdf" \| '''Wichtige Übersichtsartikel'''		\| bgcolor="#dfdfdf" \| '''Wichtige Übersichtsartikel'''
	\| align="left" width="800"\|<ref>[ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016547/pdf/jmedgene00011-0087b.pdf Limb/pelvis/uterus-hypoplasia/aplasia syndrome. Letter J Med Genetics 30 797(1993)]</ref>		\| align="left" width="800"\|<ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016547/pdf/jmedgene00011-0087b.pdf Limb/pelvis/uterus-hypoplasia/aplasia syndrome]. Letter J Med Genetics 30 797(1993)</ref>
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	\| bgcolor="#dfdfdf" \| '''Medline Suchterm/ Synonyme'''		\| bgcolor="#dfdfdf" \| '''Medline Suchterm/ Synonyme'''

Penarc: Tippsfehler

2011-07-22T00:58:46Z

Tippsfehler

← Nächstältere Version		Version vom 22. Juli 2011, 00:58 Uhr
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	Gliedmaßen-Becken-Hypoplasie /Aplasie-Syndrom auch Fuhrmann-Syndrom		Gliedmaßen-Becken-Hypoplasie /Aplasie-Syndrom auch Fuhrmann-Syndrom
	Aus dem orientalischen Raum beschriebenes Fehlbindungen ~~Syndcrom~~: Symetrische Extremitätenfehlbildungen mit Ulna- und Fibulaaplasie und Femurhypoplasie, Beine schwerer betroffen als Arme. Thoraxdystrophie, Beckenfehlbildungen, Fehlbildungen im Urogenital-System, kraniofaziale Dysmorphie, Nageldystrophien.<ref>Regine Witkowski, Otto Prokop, Eva Ullrich Lexikon der Syndrome und Fehlbildungen: Ursachen, Genetik, Risiken Springer 2003 7te.Auflage ISBN 3-540-44305-3</ref>		Aus dem orientalischen Raum beschriebenes Fehlbindungen Syndrom: Symetrische Extremitätenfehlbildungen mit Ulna- und Fibulaaplasie und Femurhypoplasie, Beine schwerer betroffen als Arme. Thoraxdystrophie, Beckenfehlbildungen, Fehlbildungen im Urogenital-System, kraniofaziale Dysmorphie, Nageldystrophien.<ref>Regine Witkowski, Otto Prokop, Eva Ullrich Lexikon der Syndrome und Fehlbildungen: Ursachen, Genetik, Risiken Springer 2003 7te. Auflage ISBN 3-540-44305-3</ref>
	<ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049375/pdf/jmedgene00093-0042.pdf Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J. Med. Genetics 22: 36-38(1985)]</ref><ref>Camera et al (1993) Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016238/?tool=pubmed PMID 1016238]</ref>		<ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049375/pdf/jmedgene00093-0042.pdf Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J. Med. Genetics 22: 36-38(1985)]</ref><ref>Camera et al (1993) Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016238/?tool=pubmed PMID 1016238]</ref>
	[[Datei:pptpdtjpg1.png\|miniatur\|Entstehender Artikel]]		[[Datei:pptpdtjpg1.png\|miniatur\|Entstehender Artikel]]

Penarc: Beschreinung

2011-07-21T18:44:46Z

Beschreinung

← Nächstältere Version		Version vom 21. Juli 2011, 18:44 Uhr
Zeile 1:		Zeile 1:
			Gliedmaßen-Becken-Hypoplasie /Aplasie-Syndrom auch Fuhrmann-Syndrom
			Aus dem orientalischen Raum beschriebenes Fehlbindungen Syndcrom: Symetrische Extremitätenfehlbildungen mit Ulna- und Fibulaaplasie und Femurhypoplasie, Beine schwerer betroffen als Arme. Thoraxdystrophie, Beckenfehlbildungen, Fehlbildungen im Urogenital-System, kraniofaziale Dysmorphie, Nageldystrophien.<ref>Regine Witkowski, Otto Prokop, Eva Ullrich Lexikon der Syndrome und Fehlbildungen: Ursachen, Genetik, Risiken Springer 2003 7te.Auflage ISBN 3-540-44305-3</ref>
			<ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049375/pdf/jmedgene00093-0042.pdf Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J. Med. Genetics 22: 36-38(1985)]</ref><ref>Camera et al (1993) Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016238/?tool=pubmed PMID 1016238]</ref>
	[[Datei:pptpdtjpg1.png\|miniatur\|Entstehender Artikel]]		[[Datei:pptpdtjpg1.png\|miniatur\|Entstehender Artikel]]
	[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049375/pdf/jmedgene00093-0042.pdf Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J. Med. Genetics 22: 36-38(1985)]<ref>Camera et al (1993) Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016238/?tool=pubmed PMID 1016238]</ref>
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Penarc: url

2011-07-21T18:05:10Z

url

← Nächstältere Version		Version vom 21. Juli 2011, 18:05 Uhr
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	\| bgcolor="#dfdfdf" \| '''Freie Übersichtsartikel'''		\| bgcolor="#dfdfdf" \| '''Freie Übersichtsartikel'''
	\| align="left" width="800" \|<ref name="PMID8423611">Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet 30(1):65-9 (1993) PMID 8423611 </ref><ref name="PMID8423610">The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. J Med Genet 30(1):62-4 (1993) PMID 8423610 </ref><ref name="PMID3066902">Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. J Med Genet 25(10):687-97 (1988) PMID 3066902 </ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005660/pdf/JCRPE-2-49.pdf Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies] J Clin Res Paediatr Endocrin 2(1):49-51.(2010) PMID 21274338</ref><ref>[http://web2.sbg.org.br/gmb/edicoesanteriores/v10n3/pdf/a19v10n3.pdf Brazil. J. Genetics 3: 611-616 (1987)]</ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559483/pdf/AJHGv79p402.pdf ~~Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome]~~ Am.J.Hum.Genetics 79(2):402-8.(2006)</ref>		\| align="left" width="800" \|<ref name="PMID8423611">Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet 30(1):65-9 (1993) PMID 8423611 </ref><ref name="PMID8423610">The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. J Med Genet 30(1):62-4 (1993) PMID 8423610 </ref><ref name="PMID3066902">Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. J Med Genet 25(10):687-97 (1988) PMID 3066902 </ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005660/pdf/JCRPE-2-49.pdf Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies] J Clin Res Paediatr Endocrin 2(1):49-51.(2010) PMID 21274338</ref><ref>[http://web2.sbg.org.br/gmb/edicoesanteriores/v10n3/pdf/a19v10n3.pdf Brazil. J. Genetics 3: 611-616 (1987)]</ref><ref>Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559483/pdf/AJHGv79p402.pdf Am.J.Hum.Genetics 79(2):402-8.(2006)]</ref>
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Penarc: Rfz8

2011-07-21T17:44:24Z

Rfz8

← Nächstältere Version		Version vom 21. Juli 2011, 17:44 Uhr
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	\| bgcolor="#dfdfdf" \| '''Wichtige Übersichtsartikel'''		\| bgcolor="#dfdfdf" \| '''Wichtige Übersichtsartikel'''
	\| align="left" width="800"\|		\| align="left" width="800"\|<ref>[ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016547/pdf/jmedgene00011-0087b.pdf Limb/pelvis/uterus-hypoplasia/aplasia syndrome. Letter J Med Genetics 30 797(1993)]</ref>
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	\| bgcolor="#dfdfdf" \| '''Medline Suchterm/ Synonyme'''		\| bgcolor="#dfdfdf" \| '''Medline Suchterm/ Synonyme'''

Penarc: Jahrgang 93

2011-07-21T17:32:56Z

Jahrgang 93

← Nächstältere Version		Version vom 21. Juli 2011, 17:32 Uhr
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	[[Datei:pptpdtjpg1.png\|miniatur\|Entstehender Artikel]]		[[Datei:pptpdtjpg1.png\|miniatur\|Entstehender Artikel]]
	[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049375/pdf/jmedgene00093-0042.pdf Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J. Med. Genetics 22: 36-38(1985)]</ref>Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016238/?tool=pubmed PMID 1016238]</ref>		[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049375/pdf/jmedgene00093-0042.pdf Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J. Med. Genetics 22: 36-38(1985)]<ref>Camera et al (1993) Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016238/?tool=pubmed PMID 1016238]</ref>
	{\| class="wikitable" \|		{\| class="wikitable" \|
	\| bgcolor="#dfdfdf" \| '''Siehe auch'''		\| bgcolor="#dfdfdf" \| '''Siehe auch'''

Penarc: Rfz7

2011-07-21T17:31:25Z

Rfz7

← Nächstältere Version		Version vom 21. Juli 2011, 17:31 Uhr
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	[[Datei:pptpdtjpg1.png\|miniatur\|Entstehender Artikel]]		[[Datei:pptpdtjpg1.png\|miniatur\|Entstehender Artikel]]
	[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049375/pdf/jmedgene00093-0042.pdf Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J. Med. Genetics 22: 36-38(1985)]		[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049375/pdf/jmedgene00093-0042.pdf Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J. Med. Genetics 22: 36-38(1985)]</ref>Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016238/?tool=pubmed PMID 1016238]</ref>
	{\| class="wikitable" \|		{\| class="wikitable" \|
	\| bgcolor="#dfdfdf" \| '''Siehe auch'''		\| bgcolor="#dfdfdf" \| '''Siehe auch'''

Penarc: Zh

2011-07-21T17:28:01Z

← Nächstältere Version		Version vom 21. Juli 2011, 17:28 Uhr
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	\| bgcolor="#dfdfdf" \| '''Freie Übersichtsartikel'''		\| bgcolor="#dfdfdf" \| '''Freie Übersichtsartikel'''
	\| align="left" width="800" \|<ref name="PMID8423611">Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet 30(1):65-9 (1993) PMID 8423611 </ref><ref name="PMID8423610">The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. J Med Genet 30(1):62-4 (1993) PMID 8423610 </ref><ref name="PMID3066902">Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. J Med Genet 25(10):687-97 (1988) PMID 3066902 </ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005660/pdf/JCRPE-2-49.pdf Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies] J Clin Res Paediatr Endocrin 2(1):49-51.(2010) PMID 21274338</ref><ref>[http://web2.sbg.org.br/gmb/edicoesanteriores/v10n3/pdf/a19v10n3.pdf Brazil. J. Genetics 3: 611-616 (1987)]</ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559483/pdf/AJHGv79p402.pdf Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome]</ref>		\| align="left" width="800" \|<ref name="PMID8423611">Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet 30(1):65-9 (1993) PMID 8423611 </ref><ref name="PMID8423610">The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. J Med Genet 30(1):62-4 (1993) PMID 8423610 </ref><ref name="PMID3066902">Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. J Med Genet 25(10):687-97 (1988) PMID 3066902 </ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005660/pdf/JCRPE-2-49.pdf Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies] J Clin Res Paediatr Endocrin 2(1):49-51.(2010) PMID 21274338</ref><ref>[http://web2.sbg.org.br/gmb/edicoesanteriores/v10n3/pdf/a19v10n3.pdf Brazil. J. Genetics 3: 611-616 (1987)]</ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559483/pdf/AJHGv79p402.pdf Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome] Am.J.Hum.Genetics 79(2):402-8.(2006)</ref>
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Penarc: 6.Rfz

2011-07-21T17:26:11Z

6.Rfz

← Nächstältere Version		Version vom 21. Juli 2011, 17:26 Uhr
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	\| bgcolor="#dfdfdf" \| '''Freie Übersichtsartikel'''		\| bgcolor="#dfdfdf" \| '''Freie Übersichtsartikel'''
	\| align="left" width="800" \|<ref name="PMID8423611">Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet 30(1):65-9 (1993) PMID 8423611 </ref><ref name="PMID8423610">The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. J Med Genet 30(1):62-4 (1993) PMID 8423610 </ref><ref name="PMID3066902">Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. J Med Genet 25(10):687-97 (1988) PMID 3066902 </ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005660/pdf/JCRPE-2-49.pdf Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies] J Clin Res Paediatr Endocrin 2(1):49-51.(2010) PMID 21274338</ref><ref>[http://web2.sbg.org.br/gmb/edicoesanteriores/v10n3/pdf/a19v10n3.pdf Brazil. J. Genetics 3: 611-616 (1987)]</ref>		\| align="left" width="800" \|<ref name="PMID8423611">Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet 30(1):65-9 (1993) PMID 8423611 </ref><ref name="PMID8423610">The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. J Med Genet 30(1):62-4 (1993) PMID 8423610 </ref><ref name="PMID3066902">Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. J Med Genet 25(10):687-97 (1988) PMID 3066902 </ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005660/pdf/JCRPE-2-49.pdf Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies] J Clin Res Paediatr Endocrin 2(1):49-51.(2010) PMID 21274338</ref><ref>[http://web2.sbg.org.br/gmb/edicoesanteriores/v10n3/pdf/a19v10n3.pdf Brazil. J. Genetics 3: 611-616 (1987)]</ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559483/pdf/AJHGv79p402.pdf Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome]</ref>
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Penarc: 5.Rfz

2011-07-21T17:15:50Z

5.Rfz

← Nächstältere Version		Version vom 21. Juli 2011, 17:15 Uhr
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	\| bgcolor="#dfdfdf" \| '''Freie Übersichtsartikel'''		\| bgcolor="#dfdfdf" \| '''Freie Übersichtsartikel'''
	\| align="left" width="800" \|<ref name="PMID8423611">Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet 30(1):65-9 (1993) PMID 8423611 </ref><ref name="PMID8423610">The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. J Med Genet 30(1):62-4 (1993) PMID 8423610 </ref><ref name="PMID3066902">Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. J Med Genet 25(10):687-97 (1988) PMID 3066902 </ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005660/pdf/JCRPE-2-49.pdf Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies] J ~~ClIn~~ Res ~~Peaditr endocrin~~ 2(1):49-51.(2010) PMID 21274338</ref>		\| align="left" width="800" \|<ref name="PMID8423611">Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet 30(1):65-9 (1993) PMID 8423611 </ref><ref name="PMID8423610">The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review. J Med Genet 30(1):62-4 (1993) PMID 8423610 </ref><ref name="PMID3066902">Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. J Med Genet 25(10):687-97 (1988) PMID 3066902 </ref><ref>[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005660/pdf/JCRPE-2-49.pdf Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies] J Clin Res Paediatr Endocrin 2(1):49-51.(2010) PMID 21274338</ref><ref>[http://web2.sbg.org.br/gmb/edicoesanteriores/v10n3/pdf/a19v10n3.pdf Brazil. J. Genetics 3: 611-616 (1987)]</ref>
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