TY - JOUR
T1 - Agenesis of the corpus callosum and congenital lymphedema
T2 - A novel recognizable syndrome?
AU - O'Driscoll, Mary C.
AU - Jenny, Kim
AU - Saitta, Sulagna
AU - Dobyns, William B.
AU - Gripp, Karen W.
PY - 2010/7
Y1 - 2010/7
N2 - 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.
AB - 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.
KW - Agenesis of the corpus callosum
KW - Congenital lymphedema
KW - Developmental delay
KW - Hypotonia
KW - Sacral dimple
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U2 - 10.1002/ajmg.a.33200
DO - 10.1002/ajmg.a.33200
M3 - Article
C2 - 20583147
AN - SCOPUS:77954113775
SN - 1552-4825
VL - 152
SP - 1621
EP - 1626
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -