Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


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PMID (PMCID)
28018470
(5177701)
 OTHER
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS.
Korean J Pediatr. 2016;59(Suppl 1):S152-S156.
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly.
22455534
 MALE Child
Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita.
Mortellaro C, Bello L, Greco Lucchina A.
Eur J Paediatr Dent. 2012;13(1):76-80.
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a craniofacial defect secondary to macrosomia; a case is presented in order to increase knowledge of the related complications in particular with respect to craniofacial development.
22455534
 MALE Child
Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita.
Mortellaro C, Bello L, Greco Lucchina A.
Eur J Paediatr Dent. 2012;13(1):76-80.
Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita.
22884750
 FEMALE Infant, Newborn
[Macrocephaly-capillary malformation. A neonatal case].
Coste K, Sarret C, Cisse A, Delabaere A, Francannet C, Vanlieferinghen P.
Arch Pediatr. 2012;19(9):917-20.
Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly syndrome first described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita, and several other abnormalities.
22884750
 FEMALE Infant, Newborn
[Macrocephaly-capillary malformation. A neonatal case].
Coste K, Sarret C, Cisse A, Delabaere A, Francannet C, Vanlieferinghen P.
Arch Pediatr. 2012;19(9):917-20.
Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly syndrome first described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita, and several other abnormalities.
22884750
 FEMALE Infant, Newborn
[Macrocephaly-capillary malformation. A neonatal case].
Coste K, Sarret C, Cisse A, Delabaere A, Francannet C, Vanlieferinghen P.
Arch Pediatr. 2012;19(9):917-20.
Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly syndrome first described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita, and several other abnormalities.
22884750
 FEMALE Infant, Newborn
[Macrocephaly-capillary malformation. A neonatal case].
Coste K, Sarret C, Cisse A, Delabaere A, Francannet C, Vanlieferinghen P.
Arch Pediatr. 2012;19(9):917-20.
Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly syndrome first described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita, and several other abnormalities.
19763591
 MIXED_SAMPLE Infant, Newborn
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update.
Martinez-Lage JF, Guillen-Navarro E, Almagro MJ, Felipe-Murcia M, Lopez Lopez-Guerrero A, Galarza M.
Childs Nerv Syst. 2010;26(1):13-8.
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a newly described condition characterized by macrocephaly (megalencephaly), cutis marmorata telangiectatica congenita, macrosomia and/or asymmetric growth, central nervous system abnormalities and neurological manifestations.
19763591
 MIXED_SAMPLE Infant, Newborn
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update.
Martinez-Lage JF, Guillen-Navarro E, Almagro MJ, Felipe-Murcia M, Lopez Lopez-Guerrero A, Galarza M.
Childs Nerv Syst. 2010;26(1):13-8.
Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a newly described condition characterized by macrocephaly (megalencephaly), cutis marmorata telangiectatica congenita, macrosomia and/or asymmetric growth, central nervous system abnormalities and neurological manifestations.
19041204
 FEMALE Infant, Newborn
Apnea and macrocephaly-cutis marmorata telangiectatica congenita.
Franklin B, Gasco J, Rangel-Castilla L, Nauta HJ.
Brain Dev. 2009;31(9):706-9.
Apnea and macrocephaly-cutis marmorata telangiectatica congenita.
19041204
 FEMALE Infant, Newborn
Apnea and macrocephaly-cutis marmorata telangiectatica congenita.
Franklin B, Gasco J, Rangel-Castilla L, Nauta HJ.
Brain Dev. 2009;31(9):706-9.
The authors report a case of an infant girl with macrocephaly-cutis marmorata telangiectatica congenita (Macrocephaly-CMTC).
19795974
 MIXED_SAMPLE Infant
Endoscopic third ventriculostomy to treat hydrocephalus associated with macrocephaly-cutis marmorata telangiectatica congenita.
Mitha AP, Bullivant KJ, Lauzon JL, Hader WJ.
J Neurosurg Pediatr. 2009;4(4):397-401.
Macrocephaly-cutis marmorata telangiectatica congenita is a rare overgrowth syndrome commonly associated with hydrocephalus.
19795974
 MIXED_SAMPLE Infant
Endoscopic third ventriculostomy to treat hydrocephalus associated with macrocephaly-cutis marmorata telangiectatica congenita.
Mitha AP, Bullivant KJ, Lauzon JL, Hader WJ.
J Neurosurg Pediatr. 2009;4(4):397-401.
The authors describe 2 cases of macrocephaly-cutis marmorata telangiectatica congenita successfully treated for progressive hydrocephalus with endoscopic third ventriculostomy.
18342719
 MALE
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features.
Katugampola R, Moss C, Mills C.
J Am Acad Dermatol. 2008;58(4):697-702.
Macrocephaly-cutis marmorata telangiectatica congenita is a recently recognized syndrome described mainly in the genetics literature.
18342719
 MALE
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features.
Katugampola R, Moss C, Mills C.
J Am Acad Dermatol. 2008;58(4):697-702.
However, children with macrocephaly-cutis marmorata telangiectatica congenita are likely to present first to a dermatologist, with generalized cutis marmorata telangiectatica congenita as the main feature.
18342719
 MALE
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features.
Katugampola R, Moss C, Mills C.
J Am Acad Dermatol. 2008;58(4):697-702.
However, children with macrocephaly-cutis marmorata telangiectatica congenita are likely to present first to a dermatologist, with generalized cutis marmorata telangiectatica congenita as the main feature.
18342719
 MALE
Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features.
Katugampola R, Moss C, Mills C.
J Am Acad Dermatol. 2008;58(4):697-702.
We report the case of a 2-year-old boy with macrocephaly-cutis marmorata telangiectatica congenita in association with dysmorphic facies, seizures, and facial and limb asymmetry, and we review the salient features of this syndrome.
18978660
 FEMALE Child
Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.
Canham NL, Holder SE.
Clin Dysmorphol. 2008;17(4):279-81.
This report describes a patient with features of macrocephaly-cutis marmorata telangiectatica congenita, though mildly affected, and her progression into teenage life.
18000912
 MIXED_SAMPLE Infant
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr.
Am J Med Genet A. 2007;143A(24):2981-3008.
This syndrome has been traditionally known as Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC), but we explain why M-CM is a more accurate term for this overgrowth syndrome.
16733449
 MALE Infant
[Macrocephaly-cutis marmorata telangiectatica congenita].
Girard C, Bessis D, Guillot B.
Ann Dermatol Venereol. 2006;133(4):349-52.
Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly/mental retardation syndrome described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita and several other abnormalities.