Macrocephaly in association with unusual cutaneous angiomatosis

Stephan, Mark J.; Hall, Bryan D.; Smith, David W.; Cohen, M. M.

doi:10.1016/s0022-3476(75)80634-2

Cited by 72 publications

(38 citation statements)

References 17 publications

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“…We agree with Clayton-Smith et al [1997] that at least three patients included in the Ringrose et al [1965] review of hemihypertrophy may well have M-CMTC. Clayton-Smith et al [1997] also noted that one patient in the report of Stephan et al [1975] probably had the disorder. After a careful review of the study by Stephan et al [1975], we decided to include as cases four patients (patients 7-10) since all have cutis marmorata telangiectatica congenita (CMTC), 52 (90) 51 (75) 51 ( macrocephaly, macrosomia, asymmetric hypertrophy and one of them, developmental delay, all findings quite characteristic of M-CMTC.…”

Section: Patients With M-cmtcmentioning

confidence: 93%

“…Clayton-Smith et al [1997] also noted that one patient in the report of Stephan et al [1975] probably had the disorder. After a careful review of the study by Stephan et al [1975], we decided to include as cases four patients (patients 7-10) since all have cutis marmorata telangiectatica congenita (CMTC), 52 (90) 51 (75) 51 ( macrocephaly, macrosomia, asymmetric hypertrophy and one of them, developmental delay, all findings quite characteristic of M-CMTC. Other authors [Robertson et al, 2000;Mégarbané et al, 2003] also included as affected the same four patients from the Stephan et al [1975] report.…”

Section: Patients With M-cmtcmentioning

confidence: 93%

“…These authors suggested that these findings comprised a unique disorder. When further cases were reported it became evident that this was indeed a different entity and that several cases of this condition had been included previously in other series of patients with hemihypertrophy, macrocephaly, cutis marmorata telangiectatica and/or as ''probably new syndromes'' [Stephan et al, 1975;Wroblewski et al, 1988;Carcao et al, 1998;Vogels et al, 1998]. …”

Section: Introductionmentioning

confidence: 98%

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

Lapunzina

Delicado

et al. 2004

American J of Med Genetics Pt A

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We report on six additional patients with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC; MIM 602501) and review the literature. This syndrome is a multiple congenital anomalies/mental retardation and overgrowth disorder comprising macrocephaly, cutis marmorata, vascular marks of lip and/or philtrum, syndactyly, hemihypertrophy, CNS anomalies, and developmental delay. Based on the findings in our 6 patients and on 69 patients previously reported we listed the very frequent (observed in >75%), frequent (25-75%), and less frequent (>25%) components of the syndrome.

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Section: Patients With M-cmtcmentioning

confidence: 93%

Section: Patients With M-cmtcmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 98%

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

Lapunzina

Delicado

et al. 2004

American J of Med Genetics Pt A

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“…Stephan et al reported on 10 unrelated patients with macrocephaly and limb asymmetry along with one or more patterns of angiomatosis: Sturge-Weber, cutis marmorata telangiectatica congenita, and KlippelTrenaunay-Weber [Stephan et al, 1975]. No other relatives had macrocephaly, and the only observed vascular anomaly was in the great-grandmother of one child.…”

Section: Bannayan Riley Zonana Ruvalcaba and Related Observationsmentioning

confidence: 99%

Inherited macrocephaly-hamartoma syndromes

DiLiberti

1998

Am. J. Med. Genet.

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Recent discoveries in the molecular biology of the phosphatase and tensin homolog (PTEN) locus in the q22-23 region of chromosome 10 prove and/or suggest that several syndromes previously considered to be clinically and genetically distinct entities should actually be unified into a single entity. This conclusion is most secure for the Cowden and "Bannayan-Zonana" phenotypes, but almost certainly should also include the "Riley-Ruvalcaba" and Lhermitte-Duclos phenotypes as well benign familial macrocephaly and external hydrocephalus. The clinical and molecular data supporting this unification are presented along with a proposal for new nomenclature-the PTEN MATCHS (macrocephaly, autosomal dominant, thyroid disease, cancer, hamartomata, skin abnormalities) syndrome-based on the observed clinical abnormalities.

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“…Some patients have macrodactly and a localized mass on the back, chest, or entire extremity. KTS also may involve the central nervous system, such as, macrocephaly, arteriovenous malformations, and intraspinal angiomas 1,8,25) . KTS is caused by mesodermal abnormalities during fetal development 2) .…”

Section: Discussionmentioning

confidence: 99%