LymphedemaV1, PubMed, Checkpoint, bibRecord, 000B69

[A complicated case study: Hennekam syndrome].

Identifieur interne : 000B69 ( PubMed/Checkpoint ); précédent : 000B68; suivant : 000B70

[A complicated case study: Hennekam syndrome].

Auteurs : Xiao-Lu Deng [République populaire de Chine] ; Fei Yin ; Guo-Yuan Zhang ; Yuan-Dong Duan

Source :

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [ 1008-8830 ] ; 2015.

RBID : pubmed:25616299

Descripteurs français

KwdFr :
- Enfant d'âge préscolaire, Humains, Lymphangiectasie intestinale (), Lymphangiectasie intestinale (diagnostic), Lymphangiectasie intestinale (étiologie), Lymphoedème (), Lymphoedème (diagnostic), Lymphoedème (étiologie), Maladies de l'appareil génital mâle (), Maladies de l'appareil génital mâle (diagnostic), Maladies de l'appareil génital mâle (étiologie), Malformations crâniofaciales (), Malformations crâniofaciales (diagnostic), Malformations crâniofaciales (étiologie), Mâle, Syndrome.
MESH :

English descriptors

KwdEn :
- Child, Preschool, Craniofacial Abnormalities (diagnosis), Craniofacial Abnormalities (etiology), Craniofacial Abnormalities (therapy), Genital Diseases, Male (diagnosis), Genital Diseases, Male (etiology), Genital Diseases, Male (therapy), Humans, Lymphangiectasis, Intestinal (diagnosis), Lymphangiectasis, Intestinal (etiology), Lymphangiectasis, Intestinal (therapy), Lymphedema (diagnosis), Lymphedema (etiology), Lymphedema (therapy), Male, Syndrome.
MESH :
- diagnosis : Craniofacial Abnormalities, Genital Diseases, Male, Lymphangiectasis, Intestinal, Lymphedema.
- etiology : Craniofacial Abnormalities, Genital Diseases, Male, Lymphangiectasis, Intestinal, Lymphedema.
- therapy : Craniofacial Abnormalities, Genital Diseases, Male, Lymphangiectasis, Intestinal, Lymphedema.
- Child, Preschool, Humans, Male, Syndrome.

Abstract

Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.

PubMed: 25616299

Affiliations:

République populaire de Chine

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Le document en format XML

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<author><name sortKey="Deng, Xiao Lu" sort="Deng, Xiao Lu" uniqKey="Deng X" first="Xiao-Lu" last="Deng">Xiao-Lu Deng</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China. duanydong@sina.com.</nlm:affiliation>
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<author><name sortKey="Yin, Fei" sort="Yin, Fei" uniqKey="Yin F" first="Fei" last="Yin">Fei Yin</name>
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<author><name sortKey="Zhang, Guo Yuan" sort="Zhang, Guo Yuan" uniqKey="Zhang G" first="Guo-Yuan" last="Zhang">Guo-Yuan Zhang</name>
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<author><name sortKey="Duan, Yuan Dong" sort="Duan, Yuan Dong" uniqKey="Duan Y" first="Yuan-Dong" last="Duan">Yuan-Dong Duan</name>
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<term>Craniofacial Abnormalities (therapy)</term>
<term>Genital Diseases, Male (diagnosis)</term>
<term>Genital Diseases, Male (etiology)</term>
<term>Genital Diseases, Male (therapy)</term>
<term>Humans</term>
<term>Lymphangiectasis, Intestinal (diagnosis)</term>
<term>Lymphangiectasis, Intestinal (etiology)</term>
<term>Lymphangiectasis, Intestinal (therapy)</term>
<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (etiology)</term>
<term>Lymphedema (therapy)</term>
<term>Male</term>
<term>Syndrome</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Enfant d'âge préscolaire</term>
<term>Humains</term>
<term>Lymphangiectasie intestinale ()</term>
<term>Lymphangiectasie intestinale (diagnostic)</term>
<term>Lymphangiectasie intestinale (étiologie)</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (diagnostic)</term>
<term>Lymphoedème (étiologie)</term>
<term>Maladies de l'appareil génital mâle ()</term>
<term>Maladies de l'appareil génital mâle (diagnostic)</term>
<term>Maladies de l'appareil génital mâle (étiologie)</term>
<term>Malformations crâniofaciales ()</term>
<term>Malformations crâniofaciales (diagnostic)</term>
<term>Malformations crâniofaciales (étiologie)</term>
<term>Mâle</term>
<term>Syndrome</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Craniofacial Abnormalities</term>
<term>Genital Diseases, Male</term>
<term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</term>
<term>Maladies de l'appareil génital mâle</term>
<term>Malformations crâniofaciales</term>
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<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Craniofacial Abnormalities</term>
<term>Genital Diseases, Male</term>
<term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Craniofacial Abnormalities</term>
<term>Genital Diseases, Male</term>
<term>Lymphangiectasis, Intestinal</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</term>
<term>Maladies de l'appareil génital mâle</term>
<term>Malformations crâniofaciales</term>
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<keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term>
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<term>Syndrome</term>
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<term>Humains</term>
<term>Lymphangiectasie intestinale</term>
<term>Lymphoedème</term>
<term>Maladies de l'appareil génital mâle</term>
<term>Malformations crâniofaciales</term>
<term>Mâle</term>
<term>Syndrome</term>
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<front><div type="abstract" xml:lang="en">Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.</div>
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<Abstract><AbstractText>Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.</AbstractText>
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[A complicated case study: Hennekam syndrome].

[A complicated case study: Hennekam syndrome].

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki