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Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
Author(s) -
O'Driscoll Mary C.,
Jenny Kim,
Saitta Sulagna,
Dobyns William B.,
Gripp Karen W.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33200
Subject(s) - agenesis of the corpus callosum , lymphedema , agenesis , oligohydramnios , corpus callosum , medicine , pediatrics , girl , corpus callosum agenesis , anatomy , psychology , developmental psychology , genetics , biology , pregnancy , fetus , cancer , breast cancer
We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance. © 2010 Wiley‐Liss, Inc.