LymphedemaV1, PascalFrancis, Curation, bibRecord, 000040

Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema : Confirmation of njolstad's report

Identifieur interne : 000040 ( PascalFrancis/Curation ); précédent : 000039; suivant : 000041

Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema : Confirmation of njolstad's report

Auteurs : S. Jacquemont [France] ; S. Barbarot [France] ; M. Boceno [France] ; J. F. Stalder [France] ; A. David [France]

Source :

American journal of medical genetics [ 0148-7299 ] ; 2000.

RBID : Pascal:00-0409725

Descripteurs français

Pascal (Inist)
- Lymphangiectasie, Poumon, Congénital, Lymphoedème, Face, Membre inférieur, Etude cas, Etude familiale, Enfant, Anasarque foetoplacentaire, Phénotype, Diagnostic, Revue bibliographique, Diagnostic différentiel, Nouveau syndrome.
Wicri :
- topic : Enfant.

English descriptors

KwdEn :
- Bibliographic review, Case study, Child, Congenital, Diagnosis, Differential diagnostic, Face, Family study, Hydrops fetalis, Lower limb, Lung, Lymphangiectasis, Lymphedema, New syndrome, Phenotype.

Abstract

We report on four cases, three familial and one sporadic, with congenital pulmonary lymphangectasia and facial and lower limb lymphedema. Hydrops fetalis was observed in three cases and death occurred in one of those. This is the third report describing inherited pulmonary lymphangectasia with a clinical phenotype very similar to that described by Njolstad et al. [1998: Eur J Pediatr 157: 498-501], who reported three sibs with non-immune hydrops fetalis (NIHF), chylothorax, pulmonary lymphangectasia, distal lymphedema, and swelling of the face. We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, lymphedema of the lower limbs and facial anomalies (flat face, hypertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects). Similarity with our cases and Hennekam syndrome will be discussed.

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C01	`01`		`ENG`	@0 We report on four cases, three familial and one sporadic, with congenital pulmonary lymphangectasia and facial and lower limb lymphedema. Hydrops fetalis was observed in three cases and death occurred in one of those. This is the third report describing inherited pulmonary lymphangectasia with a clinical phenotype very similar to that described by Njolstad et al. [1998: Eur J Pediatr 157: 498-501], who reported three sibs with non-immune hydrops fetalis (NIHF), chylothorax, pulmonary lymphangectasia, distal lymphedema, and swelling of the face. We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, lymphedema of the lower limbs and facial anomalies (flat face, hypertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects). Similarity with our cases and Hennekam syndrome will be discussed.
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Le document en format XML

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<front><div type="abstract" xml:lang="en">We report on four cases, three familial and one sporadic, with congenital pulmonary lymphangectasia and facial and lower limb lymphedema. Hydrops fetalis was observed in three cases and death occurred in one of those. This is the third report describing inherited pulmonary lymphangectasia with a clinical phenotype very similar to that described by Njolstad et al. [1998: Eur J Pediatr 157: 498-501], who reported three sibs with non-immune hydrops fetalis (NIHF), chylothorax, pulmonary lymphangectasia, distal lymphedema, and swelling of the face. We think that the present report and that of Njolstad et al. describe a new condition very similar to Hennekam syndrome, which is characterized by autosomal recessive inheritance, intestinal lymphangiectasia, lymphedema of the lower limbs and facial anomalies (flat face, hypertelorism, flat, broad nasal bridge, lymphedema, tooth anomalies, and ear defects). Similarity with our cases and Hennekam syndrome will be discussed.</div>
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<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Congénital</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Congenital</s0>
<s5>03</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Congénito</s0>
<s5>03</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Lymphoedème</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Lymphedema</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Linfedema</s0>
<s5>04</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Face</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Face</s0>
<s5>05</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Cara</s0>
<s5>05</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Membre inférieur</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Lower limb</s0>
<s5>06</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Miembro inferior</s0>
<s5>06</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Etude cas</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Case study</s0>
<s5>07</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Estudio caso</s0>
<s5>07</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Etude familiale</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Family study</s0>
<s5>08</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Estudio familiar</s0>
<s5>08</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Enfant</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Child</s0>
<s5>09</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Niño</s0>
<s5>09</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Anasarque foetoplacentaire</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="ENG"><s0>Hydrops fetalis</s0>
<s5>10</s5>
</fC03>
<fC03 i1="10" i2="X" l="SPA"><s0>Anasarca fetoplacentaria</s0>
<s5>10</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>11</s5>
</fC03>
<fC03 i1="11" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>11</s5>
</fC03>
<fC03 i1="12" i2="X" l="FRE"><s0>Diagnostic</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="ENG"><s0>Diagnosis</s0>
<s5>12</s5>
</fC03>
<fC03 i1="12" i2="X" l="SPA"><s0>Diagnóstico</s0>
<s5>12</s5>
</fC03>
<fC03 i1="13" i2="X" l="FRE"><s0>Revue bibliographique</s0>
<s5>13</s5>
</fC03>
<fC03 i1="13" i2="X" l="ENG"><s0>Bibliographic review</s0>
<s5>13</s5>
</fC03>
<fC03 i1="13" i2="X" l="SPA"><s0>Revista bibliográfica</s0>
<s5>13</s5>
</fC03>
<fC03 i1="14" i2="X" l="FRE"><s0>Diagnostic différentiel</s0>
<s5>17</s5>
</fC03>
<fC03 i1="14" i2="X" l="ENG"><s0>Differential diagnostic</s0>
<s5>17</s5>
</fC03>
<fC03 i1="14" i2="X" l="SPA"><s0>Diagnóstico diferencial</s0>
<s5>17</s5>
</fC03>
<fC03 i1="15" i2="X" l="FRE"><s0>Nouveau syndrome</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC03 i1="15" i2="X" l="ENG"><s0>New syndrome</s0>
<s4>CD</s4>
<s5>96</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Human</s0>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Appareil respiratoire pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Respiratory disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Aparato respiratorio patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Poumon pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Lung disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Pulmón patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Appareil circulatoire pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Cardiovascular disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Aparato circulatorio patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Lymphatique pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Lymphatic vessel disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Linfático patología</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Maladie congénitale</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Congenital disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Enfermedad congénita</s0>
<s5>41</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>42</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>42</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Gestation pathologie</s0>
<s5>61</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Pregnancy disorders</s0>
<s5>61</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Gestación patología</s0>
<s5>61</s5>
</fC07>
<fC07 i1="09" i2="X" l="FRE"><s0>Foetus pathologie</s0>
<s5>62</s5>
</fC07>
<fC07 i1="09" i2="X" l="ENG"><s0>Fetal diseases</s0>
<s5>62</s5>
</fC07>
<fC07 i1="09" i2="X" l="SPA"><s0>Feto patología</s0>
<s5>62</s5>
</fC07>
<fN21><s1>276</s1>
</fN21>
</pA>
</standard>
</inist>
</record>

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   |texte=   Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema : Confirmation of njolstad's report
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Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

	Serveur d'exploration sur le lymphœdème
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Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema : Confirmation of njolstad's report

Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema : Confirmation of njolstad's report

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