Unusual lymphangioma observed prenatally in a 45,X fetus

M. C.H. Haeusler; G. Ryan; V. Sams; S. C. Robson; M. Young; I. D. Sullivan; S. Lipitz; C. H. Rodeck

doi:10.1002/ajmg.1320450421

Unusual lymphangioma observed prenatally in a 45,X fetus

M. C.H. Haeusler^*, G. Ryan, V. Sams, S. C. Robson, M. Young, I. D. Sullivan, S. Lipitz, C. H. Rodeck

^*Corresponding author for this work

University of Graz

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

Abstract

We present a case of a large frontal lesion, suspected on antenatal ultrasound to be a cephalocele. The cardiac anatomy was abnormal and fetal blood sampling showed a 45,X chromosome constitution. Postmortem examination proved this to be a lymphangioma and confirmed the presence of a cardiac defect. We suggest that this lymphangioma represents an unusual manifestation of monosomy X and discuss the importance of doing chromosome analysis in the presence of such a lesion which is of similar appearance as a cephalocele.

Original language	English
Pages (from-to)	508-510
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	45
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320450421
State	Published - 1993
Externally published	Yes

Keywords

Turner syndrome
fetal anomalies
lymphatic tumors
monosomy X
prenatal diagnosis

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10.1002/ajmg.1320450421

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title = "Unusual lymphangioma observed prenatally in a 45,X fetus",

abstract = "We present a case of a large frontal lesion, suspected on antenatal ultrasound to be a cephalocele. The cardiac anatomy was abnormal and fetal blood sampling showed a 45,X chromosome constitution. Postmortem examination proved this to be a lymphangioma and confirmed the presence of a cardiac defect. We suggest that this lymphangioma represents an unusual manifestation of monosomy X and discuss the importance of doing chromosome analysis in the presence of such a lesion which is of similar appearance as a cephalocele.",

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AU - Ryan, G.

AU - Sams, V.

AU - Robson, S. C.

AU - Young, M.

AU - Sullivan, I. D.

AU - Lipitz, S.

AU - Rodeck, C. H.

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AB - We present a case of a large frontal lesion, suspected on antenatal ultrasound to be a cephalocele. The cardiac anatomy was abnormal and fetal blood sampling showed a 45,X chromosome constitution. Postmortem examination proved this to be a lymphangioma and confirmed the presence of a cardiac defect. We suggest that this lymphangioma represents an unusual manifestation of monosomy X and discuss the importance of doing chromosome analysis in the presence of such a lesion which is of similar appearance as a cephalocele.

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KW - fetal anomalies

KW - lymphatic tumors

KW - monosomy X

KW - prenatal diagnosis

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Unusual lymphangioma observed prenatally in a 45,X fetus

Abstract

Keywords

UN SDGs

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