Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation
RCM Hennekam, RA Geerdink… - American journal of …, 1989 - Wiley Online Library
RCM Hennekam, RA Geerdink, BCJ Hamel, FAM Hennekam, P Kraus, JA Rammeloo…
American journal of medical genetics, 1989•Wiley Online LibraryWe 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.
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.
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.
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