Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

Mira B. Irons; Diana W. Bianchi; Robert L. Geggel; Gerald R. Marx; Ina Bhan

doi:10.1002/(SICI)1096-8628(19961202)66:1<69::AID-AJMG15>3.0.CO;2-O

Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

Mira B. Irons^*, Diana W. Bianchi, Robert L. Geggel, Gerald R. Marx, Ina Bhan

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.

Original language	English (US)
Pages (from-to)	69-71
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	66
Issue number	1
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1<69::AID-AJMG15>3.0.CO;2-O
State	Published - Dec 2 1996
Externally published	Yes

Keywords

atrial septal defect
congenital lymphedema
hydrocele
speech delay

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1002/(SICI)1096-8628(19961202)66:1<69::AID-AJMG15>3.0.CO;2-O

Cite this

@article{8189f0a0f0ae415caffa6602afc8c92a,

title = "Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes",

abstract = "We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.",

keywords = "atrial septal defect, congenital lymphedema, hydrocele, speech delay",

author = "Irons, {Mira B.} and Bianchi, {Diana W.} and Geggel, {Robert L.} and Marx, {Gerald R.} and Ina Bhan",

year = "1996",

month = dec,

day = "2",

doi = "10.1002/(SICI)1096-8628(19961202)66:1<69::AID-AJMG15>3.0.CO;2-O",

language = "English (US)",

volume = "66",

pages = "69--71",

journal = "American Journal of Medical Genetics",

issn = "0148-7299",

publisher = "Wiley-Liss Inc.",

number = "1",

}

TY - JOUR

T1 - Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

AU - Irons, Mira B.

AU - Bianchi, Diana W.

AU - Geggel, Robert L.

AU - Marx, Gerald R.

AU - Bhan, Ina

PY - 1996/12/2

Y1 - 1996/12/2

N2 - We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.

AB - We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.

KW - atrial septal defect

KW - congenital lymphedema

KW - hydrocele

KW - speech delay

UR - http://www.scopus.com/inward/record.url?scp=0029965627&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029965627&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19961202)66:1<69::AID-AJMG15>3.0.CO;2-O

DO - 10.1002/(SICI)1096-8628(19961202)66:1<69::AID-AJMG15>3.0.CO;2-O

M3 - Article

C2 - 8957515

AN - SCOPUS:0029965627

SN - 0148-7299

VL - 66

SP - 69

EP - 71

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 1

ER -

Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this