- Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patientsRobert L Conway
Cedars Sinai Medical Center, Los Angeles, California, USA
Am J Med Genet A 143:2981-3008. 2007..One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. This is the second apparent occurrence of this specific tumor in M-CM...
- A patient with TCIRG1-related infantile osteopetrosis presenting with congenital anomalies: chance association or a case for pleiotropy?Robert L Conway
Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA
Am J Med Genet A 143:3140-3. 2007
- Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three casesRobert L Conway
Department of Pediatrics, Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
J Neurosurg 106:296-301. 2007..Ectopic cerebellar tonsils have been reported previously in cases of M-CMTC, and this phenomenon may be a secondary event associated with brain overgrowth rather than due to a congenitally small posterior fossa...
- Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2Blake C Ballif
Signature Genomic Laboratories, Spokane, Washington 99202, USA
Nat Genet 39:1071-3. 2007..2-p12.2 constitute a previously undescribed syndrome...