LymphedemaV1, Main, Exploration, bibRecordById, PMC:2568883

Familial congenital non‐immune hydrops, chylothorax, and pulmonary lymphangiectasia

Identifieur interne : 007C66 ( Main/Exploration ); précédent : 007C65; suivant : 007C67

Familial congenital non‐immune hydrops, chylothorax, and pulmonary lymphangiectasia

Auteurs : David A. Stevenson [États-Unis] ; Theodore J. Pysher [États-Unis] ; Robert M. Ward [États-Unis] ; John C. Carey [États-Unis]

Source :

American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2006-02-15.

RBID : ISTEX:FD1EA40ADF65070C8DDACF80E6ADD8ECBBF1EE92

Descripteurs français

KwdFr :
- Adolescent, Chylothorax (), Chylothorax (génétique), Femelle, Grossesse, Gènes récessifs, Humains, Issue fatale, Lymphangiectasie (), Lymphangiectasie (génétique), Lymphoedème (), Lymphoedème (génétique), Maladies pulmonaires (), Maladies pulmonaires (génétique), Malformations multiples, Mâle, Nouveau-né, Oedème (), Oedème (génétique), Âge gestationnel, Épanchement pleural.
MESH :
- génétique : Chylothorax, Lymphangiectasie, Lymphoedème, Maladies pulmonaires, Oedème.
- Adolescent, Chylothorax, Femelle, Grossesse, Gènes récessifs, Humains, Issue fatale, Lymphangiectasie, Lymphoedème, Maladies pulmonaires, Malformations multiples, Mâle, Nouveau-né, Oedème, Âge gestationnel, Épanchement pleural.

English descriptors

KwdEn :
- Abnormalities, Multiple, Adolescent, Chylothorax (congenital), Chylothorax (genetics), Edema (congenital), Edema (genetics), Fatal Outcome, Female, Genes, Recessive, Gestational Age, Humans, Infant, Newborn, Lung Diseases (congenital), Lung Diseases (genetics), Lymphangiectasis (congenital), Lymphangiectasis (genetics), Lymphedema (congenital), Lymphedema (genetics), Male, Pleural Effusion, Pregnancy.
MESH :
- congenital : Chylothorax, Edema, Lung Diseases, Lymphangiectasis, Lymphedema.
- genetics : Chylothorax, Edema, Lung Diseases, Lymphangiectasis, Lymphedema.
- Abnormalities, Multiple, Adolescent, Fatal Outcome, Female, Genes, Recessive, Gestational Age, Humans, Infant, Newborn, Male, Pleural Effusion, Pregnancy.

Abstract

Pulmonary lymphangiectasia is an uncommon congenital anomaly, and familial occurrence has rarely been reported. We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectasia (CPL) histologically in the first case. Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co‐occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in vascular endothelial growth factor receptor‐3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema‐distichiasis syndrome, and fatal chylothorax in α9‐deficient mice are potential candidate genes. © 2006 Wiley‐Liss, Inc.

Url:

DOI: 10.1002/ajmg.a.31093

Affiliations:

Le document en format XML

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<term>Adolescent</term>
<term>Chylothorax (congenital)</term>
<term>Chylothorax (genetics)</term>
<term>Edema (congenital)</term>
<term>Edema (genetics)</term>
<term>Fatal Outcome</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Gestational Age</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Lung Diseases (congenital)</term>
<term>Lung Diseases (genetics)</term>
<term>Lymphangiectasis (congenital)</term>
<term>Lymphangiectasis (genetics)</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Pleural Effusion</term>
<term>Pregnancy</term>
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<term>Chylothorax ()</term>
<term>Chylothorax (génétique)</term>
<term>Femelle</term>
<term>Grossesse</term>
<term>Gènes récessifs</term>
<term>Humains</term>
<term>Issue fatale</term>
<term>Lymphangiectasie ()</term>
<term>Lymphangiectasie (génétique)</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (génétique)</term>
<term>Maladies pulmonaires ()</term>
<term>Maladies pulmonaires (génétique)</term>
<term>Malformations multiples</term>
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<term>Nouveau-né</term>
<term>Oedème ()</term>
<term>Oedème (génétique)</term>
<term>Âge gestationnel</term>
<term>Épanchement pleural</term>
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<term>Edema</term>
<term>Lung Diseases</term>
<term>Lymphangiectasis</term>
<term>Lymphedema</term>
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<term>Edema</term>
<term>Lung Diseases</term>
<term>Lymphangiectasis</term>
<term>Lymphedema</term>
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<term>Lymphangiectasie</term>
<term>Lymphoedème</term>
<term>Maladies pulmonaires</term>
<term>Oedème</term>
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<keywords scheme="MESH" xml:lang="en"><term>Abnormalities, Multiple</term>
<term>Adolescent</term>
<term>Fatal Outcome</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Gestational Age</term>
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<term>Gènes récessifs</term>
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<front><div type="abstract" xml:lang="en">Pulmonary lymphangiectasia is an uncommon congenital anomaly, and familial occurrence has rarely been reported. We report on two sibs with bilateral pleural effusion/chylothorax and hydrops who died neonatally. One sib required prenatal intrauterine hemithoracic drainage. Autopsy confirmed congenital pulmonary lymphangiectasia (CPL) histologically in the first case. Hydrops, characterized as subcutaneous edema and effusions in two or more body cavities, may be due to a variety of factors, but the co‐occurrence of CPL in one of these sibs, although rare, supports the notion that chylothorax and hydrops may be caused by structural lesions of lymph channels. Although most cases of CPL are sporadic, the reported sibs support autosomal recessive inheritance, with intrafamilial variability of a lymphatic disorder on a genetic basis. Mutations in vascular endothelial growth factor receptor‐3 (VEGFR3) in families with Milroy disease, mutations of FOXC2 in the lymphedema‐distichiasis syndrome, and fatal chylothorax in α9‐deficient mice are potential candidate genes. © 2006 Wiley‐Liss, Inc.</div>
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Familial congenital non‐immune hydrops, chylothorax, and pulmonary lymphangiectasia

Familial congenital non‐immune hydrops, chylothorax, and pulmonary lymphangiectasia

Source :

Descripteurs français

English descriptors

Abstract

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