BIOMAT Database Logo BIOMAT Database Logo

Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? 2010

Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK. mary.odriscoll@nhs.net

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008209 Lymphedema Edema due to obstruction of lymph vessels or disorders of the lymph nodes. Milroy's Disease,Congenital Familial Lymphedema,Congenital Hereditary Lymphedema,Early Onset Lymphedema,Hereditary Lymphedema,Hereditary Lymphedema 1,Hereditary Lymphedema Type I,Lymphedema, Early-Onset,Lymphedema, Hereditary, Ia,Milroy Disease,Nonne-Milroy Disease,Nonne-Milroy Lymphedema,Nonne-Milroy-Meige Disease,Primary Congenital Lymphedema,Congenital Hereditary Lymphedemas,Congenital Lymphedema, Primary,Congenital Lymphedemas, Primary,Early Onset Lymphedemas,Early-Onset Lymphedema,Early-Onset Lymphedemas,Hereditary Lymphedema 1s,Hereditary Lymphedema, Congenital,Hereditary Lymphedemas,Hereditary Lymphedemas, Congenital,Lymphedema, Congenital Hereditary,Lymphedema, Early Onset,Lymphedema, Hereditary,Lymphedema, Nonne-Milroy,Lymphedema, Primary Congenital,Lymphedemas,Lymphedemas, Congenital Hereditary,Lymphedemas, Early Onset,Lymphedemas, Early-Onset,Lymphedemas, Hereditary,Lymphedemas, Primary Congenital,Milroys Disease,Nonne Milroy Disease,Nonne Milroy Lymphedema,Nonne Milroy Meige Disease,Primary Congenital Lymphedemas
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D008297 Male Males
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

Related Publications

Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
Klinefelter Syndrome and Corpus Callosum Agenesis.
November 2020, Indian journal of pediatrics,
Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
Congenital macular dystrophy, corpus callosum agenesis, hippocampi hypoplasia--a novel neuro-ophthalmic syndrome: case report.
March 2012, Ophthalmic genetics,
Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
[Corpus callosum agenesis].
January 2003, Revista de neurologia,
Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
Corpus callosum agenesis.
January 2001, Neurosciences (Riyadh, Saudi Arabia),
Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
[Corpus callosum agenesis].
January 2001, Ryoikibetsu shokogun shirizu,
Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
Corpus callosum agenesis.
January 2001, Saudi medical journal,
Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
Congenital asymmetric crying facies and agenesis of corpus callosum.
March 2003, Brain & development,
Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
Agenesis of the corpus callosum in Apert syndrome?
May 1989, Archives of neurology,
Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
Congenital cytomegalovirus infection associated with corpus callosum agenesis.
April 2007, Pediatric neurology,
Mary C O'Driscoll, and Kim Jenny, and Sulagna Saitta, and William B Dobyns, and Karen W Gripp
The clinical significance of congenital agenesis of the corpus callosum.
January 1988, Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists,
Copied contents to your clipboard!