Vascular malformations: Part II: associated syndromes

MC Garzon, JT Huang, O Enjolras, IJ Frieden - Journal of the American …, 2007 - Elsevier
Cutaneous vascular malformations are rare disorders representing errors in vascular
development. These lesions occur much less commonly but are often confused with the …

Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria

AK Kienast, PH Hoeger - Clinical and experimental dermatology, 2009 - academic.oup.com
Background. Cutis marmorata telangiectatica congenita (CMTC) is a congenital vascular
anomaly of unknown aetiology. About 300 cases have been reported in the literature. The …

Fetal plasma testosterone correlates positively with cortisol

R Gitau, D Adams, NM Fisk, V Glover - Archives of Disease in Childhood …, 2005 - fn.bmj.com
Background: Fetal exposure to testosterone has been implicated in programming childhood
behaviour, but little is known about the determinants of fetal testosterone concentrations …

Cutis marmorata telangiectatica congenita: a literature review

TNPT Bui, A Corap, A Bygum - Orphanet journal of rare diseases, 2019 - Springer
Background Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary
malformation characterised by persistent reticulated marbled erythema. It tends to be …

Vascular birthmarks of infancy: resolving nosologic confusion

JL Hand, IJ Frieden - American journal of medical genetics, 2002 - Wiley Online Library
The terminology describing congenital vascular birthmarks has been a source of confusion
in the medical literature. Mulliken and Glowacki [1982: Plas Recons Surg 69: 412–422] …

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

KMG Snape, D Ruddy, M Zenker… - American journal of …, 2009 - Wiley Online Library
The combination of aplasia cutis congenita (ACC) and terminal transverse limb defects
(TTLD) is often referred to as the eponymous Adams–Oliver syndrome (AOS). The molecular …

Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy

MS Lee, MG Liang, JB Mulliken - Journal of the American Academy of …, 2013 - Elsevier
Background Categorization of vascular anomalies with overgrowth is evolving rapidly with
the aid of massively parallel genomic sequencing; however, accurate clinical diagnosis is …

Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis

A Torrelo, A Zambrano, R Happle - British Journal of …, 2003 - academic.oup.com
Two patients with an unusual association of extensive cutis marmorata telangiectatica
congenita and aberrant mongolian spots are reported. We believe that such association is …

Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis

P Redondo, L Aguado, A Martínez-Cuesta - Journal of the American …, 2011 - Elsevier
There is significant confusion in the literature when describing vascular anomalies, and
vascular malformations are often misnamed or incorrectly classified. Part I of this two-part …

The misnomer “macrocephaly–cutis marmorata telangiectatica congenita syndrome”: report of 12 new cases and support for revising the name to macrocephaly …

DR Wright, IJ Frieden, SJ Orlow, HT Shin… - Archives of …, 2009 - jamanetwork.com
Background The condition known as macrocephaly–cutis marmorata telangiectatica
congenita syndrome (M-CMTC) is a rare congenital syndrome of unknown etiology …