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Am J Med Genet. 1989 Dec;34(4):593-600.

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

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1
Clinical Genetics Center Utrecht, The Netherlands.

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.

PMID:
2624276
DOI:
10.1002/ajmg.1320340429
[Indexed for MEDLINE]
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