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Literature DB >> 21077203

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.

Víctor Martínez-Glez¹, Valeria Romanelli, María A Mori, Ricardo Gracia, Mabel Segovia, Antonio González-Meneses, Juan C López-Gutierrez, Esther Gean, Loreto Martorell, Pablo Lapunzina.

Abstract

Macrocephaly-capillary malformation (M-CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation. We describe the clinical features of 13 cases, report on the genome-wide Copy Number Variation characterization of these patients, analyze the main clinical features of this syndrome and propose a modification of the current diagnostic criteria: the inclusion of both overgrowth/asymmetry and neuroimaging alterations as major criteria.

Entities: Disease Species

Mesh：

Substances：
Genetic Markers

Year: 2010 PMID： 21077203 DOI： 10.1002/ajmg.a.33514

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

Keyword Cloud
Cited

13 in total

1. Proteus syndrome: Clinical profile of six patients and review of literature.

Authors: Suresh Kumar Angurana; Renu Suthar Angurana; Inusha Panigrahi; Ram Kumar Marwaha
Journal: Indian J Hum Genet Date: 2013-04

2. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Authors: Sheng Chih Jin; Weilai Dong; Adam J Kundishora; Shreyas Panchagnula; Andres Moreno-De-Luca; Charuta G Furey; August A Allocco; Rebecca L Walker; Carol Nelson-Williams; Hannah Smith; Ashley Dunbar; Sierra Conine; Qiongshi Lu; Xue Zeng; Michael C Sierant; James R Knight; William Sullivan; Phan Q Duy; Tyrone DeSpenza; Benjamin C Reeves; Jason K Karimy; Arnaud Marlier; Christopher Castaldi; Irina R Tikhonova; Boyang Li; Helena Perez Peña; James R Broach; Edith M Kabachelor; Peter Ssenyonga; Christine Hehnly; Li Ge; Boris Keren; Andrew T Timberlake; June Goto; Francesco T Mangano; James M Johnston; William E Butler; Benjamin C Warf; Edward R Smith; Steven J Schiff; David D Limbrick; Gregory Heuer; Eric M Jackson; Bermans J Iskandar; Shrikant Mane; Shozeb Haider; Bulent Guclu; Yasar Bayri; Yener Sahin; Charles C Duncan; Michael L J Apuzzo; Michael L DiLuna; Ellen J Hoffman; Nenad Sestan; Laura R Ment; Seth L Alper; Kaya Bilguvar; Daniel H Geschwind; Murat Günel; Richard P Lifton; Kristopher T Kahle
Journal: Nat Med Date: 2020-10-19 Impact factor: 53.440

Review 3. Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature.

Authors: M Alamar; S Candela; A Flor-Goikoetxea; H Salvador; A F Martinez-Monseny; J Muchart; J Hinojosa
Journal: Childs Nerv Syst Date: 2021-05-28 Impact factor: 1.475

4. Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

Authors: Daniel T Swarr; Nahla Khalek; James Treat; Margaret A Horton; Ghayda M Mirzaa; Jean-Baptiste Riviere; William B Dobyns; Elaine H Zackai
Journal: Prenat Diagn Date: 2013-07-23 Impact factor: 3.050

Review 5. Vascular neurocutaneous disorders: neurospinal and craniofacial imaging findings.

Authors: Ahmed Abdel Khalek Abdel Razek
Journal: Jpn J Radiol Date: 2014-07-31 Impact factor: 2.374

Review 6. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

Authors: Sofia Douzgou; Myfanwy Rawson; Eulalia Baselga; Moise Danielpour; Laurence Faivre; Alon Kashanian; Kim M Keppler-Noreuil; Paul Kuentz; Grazia M S Mancini; Marie-Cecile Maniere; Victor Martinez-Glez; Victoria E Parker; Robert K Semple; Siddharth Srivastava; Pierre Vabres; Marie-Claire Y De Wit; John M Graham; Jill Clayton-Smith; Ghayda M Mirzaa; Leslie G Biesecker
Journal: Clin Genet Date: 2021-07-16 Impact factor: 4.296

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.

1. Proteus syndrome: Clinical profile of six patients and review of literature.

2. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.

Review 3. Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature.

4. Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

Review 5. Vascular neurocutaneous disorders: neurospinal and craniofacial imaging findings.

Review 6. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.

7. PIK3CA-related overgrowth with an uncommon phenotype: case report.

8. Cutis marmorata telangiectatica congenita in a preterm newborn - Case report and literature review.

9. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

10. Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease.