Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

R. C.M. Hennekam; R. A. Geerdink; B. C.J. Hamel; F. A.M. Hennekam; P. Kraus; J. A. Rammeloo; A. A.W. Tillemans

doi:10.1002/ajmg.1320340429

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

R. C.M. Hennekam^*
, R. A. Geerdink
, B. C.J. Hamel
, F. A.M. Hennekam
, P. Kraus
, J. A. Rammeloo
, A. A.W. Tillemans

^*Corresponding author for this work

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

108 Citations (Scopus)

Abstract

We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.

Original language	English
Pages (from-to)	593-600
Number of pages	8
Journal	American Journal of Medical Genetics
Volume	34
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320340429
Publication status	Published - 1 Dec 1989

Keywords

familial
lymphedema
protein-losing gastroenteropathy
seizures
unusual face

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title = "Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation",

abstract = "We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.",

keywords = "familial, lymphedema, protein-losing gastroenteropathy, seizures, unusual face",

author = "Hennekam, \{R. C.M.\} and Geerdink, \{R. A.\} and Hamel, \{B. C.J.\} and Hennekam, \{F. A.M.\} and P. Kraus and Rammeloo, \{J. A.\} and Tillemans, \{A. A.W.\}",

year = "1989",

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doi = "10.1002/ajmg.1320340429",

language = "English",

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TY - JOUR

T1 - Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

AU - Hennekam, R. C.M.

AU - Geerdink, R. A.

AU - Hamel, B. C.J.

AU - Hennekam, F. A.M.

AU - Kraus, P.

AU - Rammeloo, J. A.

AU - Tillemans, A. A.W.

PY - 1989/12/1

Y1 - 1989/12/1

N2 - We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.

AB - We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small mouth, tooth anomalies, and ear defects. Their parents are consanguineous. This disorder probably is an hitherto undescribed autosomal recessive syndrome.

KW - familial

KW - lymphedema

KW - protein-losing gastroenteropathy

KW - seizures

KW - unusual face

UR - https://www.scopus.com/pages/publications/0024792730

U2 - 10.1002/ajmg.1320340429

DO - 10.1002/ajmg.1320340429

M3 - Article

C2 - 2624276

AN - SCOPUS:0024792730

SN - 0148-7299

VL - 34

SP - 593

EP - 600

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 4

ER -

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation

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Keywords

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