Macrocephaly‐cutis marmorata telangiectatica congenita: Report of six new patients and a review

Lapunzina, Pablo; A, Gairi; Delicado, Alicia; Mori, María Ángeles; Torres, M. L. de; Goma, Anton; Navia, Marcelo; Pajares, I. López

doi:10.1002/ajmg.a.30235

Cited by 91 publications

(71 citation statements)

References 31 publications

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“…1,2 To date, excluding our patient, 75 cases of M-CMTC have been described worldwide in the English-language literature and summarized by Lapunzina et al 6 Some of these cases were associated with life-threatening complications and poor clinical outcome.…”

Section: Discussionmentioning

confidence: 92%

Macrocephaly–cutis marmorata telangiectatica congenita: A case report and review of salient features

Katugampola

Moss

Mills

2008

Journal of the American Academy of Dermatology

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Section: Discussionmentioning

confidence: 92%

Macrocephaly–cutis marmorata telangiectatica congenita: A case report and review of salient features

Katugampola

Moss

Mills

2008

Journal of the American Academy of Dermatology

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“…More than 140 cases have been reported in the literature and numerous sets of diagnostic criteria proposed [Clayton-Smith et al, 1997;Moore et al, 1997;Franceschini et al, 2000;Lapunzina et al, 2004;Conway et al, 2007;Gonzalez et al, 2009;Martínez-Glez et al, 2010]. The most consistent features of MCAP appear to be congenital or early postnatal MEG and cutaneous capillary malformations, such as persistent nevus flammeus and/or vivid cutis marmorata .…”

Section: Mcap: a Disorder Of Brain And Body Overgrowthmentioning

confidence: 93%

Megalencephaly Syndromes and Activating Mutations in the PI3K‐AKT Pathway: MPPH and MCAP

Mirzaa¹,

Rivière²,

Dobyns³

2013

American J of Med Genetics Pt C

147

138

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The megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP) syndromes are highly recognizable and partly overlapping disorders of brain overgrowth (megalencephaly). Both syndromes are characterized by congenital or early postnatal megalencephaly, with a high risk for progressive ventriculomegaly leading to hydrocephalus and cerebellar tonsillar ectopia leading to Chiari malformation, and cortical brain abnormalities, specifically polymicrogyria. MCAP is further characterized by distinct cutaneous capillary malformations, finger or toe syndactyly, postaxial polydactyly, variable connective tissue dysplasia and mild focal or segmental body overgrowth, among other features. MPPH, on the other hand, lacks consistent vascular or somatic manifestations besides postaxial polydactyly in almost half of reported individuals. We identified de novo germline mutations in PIK3R2 and AKT3 in individuals with MPPH, and both postzygotic, mosaic and rare germline mutations in PIK3CA in individuals with MCAP. PIK3R2, AKT3, and PIK3CA are members of the critical phosphatidylinositol-3-kinase (PI3K)-vakt murine thymoma viral oncogene homolog (AKT) pathway that is well implicated in cell growth, proliferation, survival, apoptosis, among other diverse cellular functions. The identified mutations in these three genes have been shown to lead to gain of function and activation of the PI3K-AKT pathway. Germline and postzygotic mutations of PIK3CA and other PI3K-AKT-mTOR pathway genes have also been identified in several other overgrowth syndromes, highlighting the key role of this signaling pathway in normal development and pathophysiology of a large group of congenital anomalies.

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“…10,11 The diagnosis of macrocephaly-cutis marmorata telangiectatica congenita syndrome was established in three patients with skin abnormalities. 12 One patient presented with suggestive facial gestalt (shallow orbits), accelerated growth and skeletal maturation, overgrowth and broad middle phalanges characteristic of the Marshall-Smith syndrome. 13 One patient was considered as having the Simpson-GolabiBehmel syndrome, because he presented with macrocephaly, the characteristic facial dysmorphism (large protruding jaw, broad nasal bridge), supernumerary nipples, rib abnormalities, hepatosplenomegaly and cardiac abnormalities.…”

Section: Materials and Methods Subjectsmentioning

confidence: 99%

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

et al. 2009

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Overgrowth syndromes are a heterogeneous group of conditions including endocrine hormone disorders, several genetic syndromes and other disorders with unknown etiopathogenesis. Among genetic causes, chromosomal deletions and duplications such as dup(4)(p16.3), dup(15)(q26qter), del(9)(q22.32q22.33), del(22)(q13) and del(5)(q35) have been identified in patients with overgrowth. Most of them, however, remain undetectable using banding karyotype analysis. In this study, we report on the analysis using a 1-Mb resolution array-based comparative genomic hybridization (CGH) of 93 patients with either a recognizable overgrowth condition (ie, Sotos syndrome or Weaver syndrome) or an unclassified overgrowth syndrome. Five clinically relevant imbalances (three duplications and two deletions) were identified and the pathogenicity of two additional anomalies (one duplication and one deletion) is discussed. Altered segments ranged in size from 0.32 to 18.2 Mb, and no recurrent abnormality was identified. These results show that array-CGH provides a high diagnostic yield in patients with overgrowth syndromes and point to novel chromosomal regions associated with these conditions. Although chromosomal deletions are usually associated with growth retardation, we found that the majority of the imbalances detected in our patients are duplications. Besides their importance for diagnosis and genetic counseling, our results may allow to delineate new contiguous gene syndromes associated with overgrowth, pointing to new genes, the deregulation of which may be responsible for growth defect.

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Macrocephaly‐cutis marmorata telangiectatica congenita: Report of six new patients and a review

Cited by 91 publications

References 31 publications

Macrocephaly–cutis marmorata telangiectatica congenita: A case report and review of salient features

Macrocephaly–cutis marmorata telangiectatica congenita: A case report and review of salient features

Megalencephaly Syndromes and Activating Mutations in the PI3K‐AKT Pathway: MPPH and MCAP

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

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