Papers
Hydrozephalus im Kindesalter Ursachen und bildmorphologische Darstellung [Hydrocephalus in childhood Causes and imaging patterns]
Publish Date: Sept 2012
Radiologe.
Le syndrome macrocéphalie – malformation capillaire. Intérêt du diagnostic en période néonatale [Macrocephaly-capillary malformation. A neonatal case.]
Publish Date: August 08, 2012
Arch Pediatr.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Publish Date: June 24, 2012
Nat Genet
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Publish Date: June 24, 2012
Nat Genet
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome.
Publish Date: June 08, 2012
Am J Hum Genet.
Discordant monozygotic twins for macrocephaly-capillary malformation.
Publish Date: May 14, 2012
Am J Med Genet A.
Macrocephaly-Capillary Malformation Syndrome in a Newborn With Tetralogy of Fallot and Sagittal Sinus Thrombosis.
Publish Date: March 25, 2012
J Child Neurol.
Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita.
Publish Date: March 13, 2012
Eur J Paediatr Dent
Macrocephaly-Capillary Malformation Presenting with Fetal Arrhythmia.
Publish Date: February 13, 2012
Pediatr Dermatol.
Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.
Publish Date: January 16, 2012
Clin Dysmorphol.
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
Publish Date: January 06, 2012
Am J Med Genet A.
Diagnosis and management of extensive vascular malformations of the lower limb Part I. Clinical diagnosis.
Publish Date: Nov 2011
J Am Acad Dermatol.
Diagnosis and management of extensive vascular malformations of the lower limb Part II. Systemic repercusion, diagnosis, and treatment.
Publish Date: Nov 2011
J Am Acad Dermatol.
Macrocephaly-capillary malformation syndrome: Three new cases.
Publish Date: October 24, 2011
J Neurol Sci.
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome.
Publish Date: July 27, 2011
N Engl J Med.
Macrocephaly-capillary malformation syndrome: Description of a case and review of clinical diagnostic criteria.
Publish Date: February 25, 2011
The Japanese Society of Child Neurology
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.
Publish Date: November 12, 2010
Am J Med Genet A
High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as likely cause of structural brain and spinal cord abnormalities.
Publish Date: May 2010
Am J Med Genet A
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update.
Publish Date: January 2010
Childs Nerv Syst
Endoscopic third ventriculostomy to treat hydrocephalus associated with macrocephaly-cutis marmorata telangiectatica congenita.
Publish Date: October 2009
J Neurosurg Pediatr
Apnea and macrocephaly-cutis marmorata telangiectatica congenita.
Publish Date: October 2009
Brain Dev
Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings.
Publish Date: September 2009
AJNR Am J Neuroradiol
Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature.
Publish Date: September 2009
J Med Case Reports
Macrocephaly-capillary malformation: a report of three cases and review of the literature.
Publish Date: May-June 2009
Pediatr Dermatol
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
Publish Date: May 2009
Am J Med Genet A
Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
Publish Date: March 2009
Genet Med.
Macrocephaly-cutis marmorata telangiectatica congenita.
Publish Date: March-April 2009
Eur J Dermatol
The misnomer “macrocephaly-cutis marmorata telangiectatica congenita syndrome”: report of 12 new cases and support for revising the name to macrocephaly-capillary malformations.
Publish Date: March 2009
Arch Dermatol
Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.
Publish Date: October 2008
Clin Dysmorphol
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly.
Publish Date: August 2008
J Child Neurol
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features.
Publish Date: April 2008
J Am Acad Dermatol
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Publish Date: December 15, 2007
Am J Med Genet A
Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).
Publish Date: December 15, 2007
Am J Med Genet A
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
Publish Date: August 2007
Neuropediatrics
Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases.
Publish Date: April 2007
J Neurosurg
A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.
Publish Date: Nov - Dec 2008
Eur J Med Genet
[Macrocephaly-cutis marmorata telangiectatica congenita]
Publish Date: April 2006
Ann Dermatol Venereol
Macrocephaly-cutis marmorata telangiectatica congenita syndrome—prenatal signs in ultrasonography.
Publish Date: Feb 2005
Prenat Diagn.
A Case of Macrocephaly-Cutis Marmorata Telangiectatica Congenita Complicated with Growth Hormone (GH)-Deficiency and Hypothyroidism
Publish Date: 2005
Clin Pediatr Endocrinol
MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
Publish Date: 2005
Genet Couns
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
Publish Date: December 2004
Neuropediatrics
Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.
Publish Date: September 15, 2004
Am J Med Genet A
A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.
Publish Date: Jul-Sep 2004
Ann Genet
Macrocephaly-Cutis marmorata telangiectatica congenita with atrial septal aneurysm and magnetic resonance imaging (MRI) findings.
Publish Date: June 2004
Pediatr Int
Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.
Publish Date: April 01, 2004
Am J Med Genet A
Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation.
Publish Date: 2003
Genet Couns
Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.
Publish Date: August 01, 2001
Am J Med Genet
Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?
Publish Date: February 14, 2000
Am J Med Genet
Macrocephaly—cutis marmorata telangiectatica congenita: report of five patients and a review of the literature.
Publish Date: January 2000
Clin Dysmorphol
A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia—a diagnostic dilemma.
Publish Date: October 1999
Clin Dysmorphol
A case of the new overgrowth syndrome- macrocephaly with cutis marmorata, haemangioma and syndactyly.
Publish Date: May-June 1999
Pediatr Dermatol.
What syndrome is this? Macrocephaly with cutis marmorata, hemangioma, and syndactyly syndrome.
Publish Date: May-June 1999
Pediatr Dermatol.
MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.
Publish Date: March 04, 1998
Am J Med Genet
The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents.
Publish Date: 1998
Genet Couns
Macrocephaly with cutis marmorata, haemangioma and syndactyly—a distinctive overgrowth syndrome.
Publish Date: October 1997
Clin Dysmorphol.
Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.
Publish Date: May 02, 1997
Am J Med Genet. 1997 May 2;70(1):67-73
Hemihypertrophy, hemimegalencephaly, and polydactyly.
Publish Date: December 11, 1996
Am J Med Genet.
Macrocephaly in association with unusual cutaneous angiomatosis.
Publish Date: September 1975
J Pediatr.
