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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous disorder. More than one half of the patients with CMTC have additional extra-cutaneous associated congenital anomalies. A subset of patients with CMTC have macrocephaly, the M-CMTC syndrome. This is a report on a patient with the M-CMTC syndrome and a de novo translocation t(2;17)(p11;p13). The etiology and pathology of the M-CMTC syndrome is unknown. Suggestions for the cause for M-CMTC include the occurrence of a new dominant mutation in a single gene, deletion of multiple contiguous genes at a level beyond the resolution of conventional karyotyping and chromosomal mosaicism. This patient did not have chromosomal mosaicism, however he had a translocation. It can be postulated that in the present patient the translocation breakpoints disrupted one or more genes entailing skin lesions but also other features: mental retardation, macrocephaly and facial dysmorphia.
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PMID:Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation. 1287 11

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a recently described multiple congenital anomaly/mental retardation (MCA/MR) syndrome of unknown cause. This condition is easily recognizable at birth in children with macrocephaly, cutis marmorata, face and/or body segmental overgrowth, toe syndactyly, midface capillary malformation, and hemimegalencephaly. Cutis marmorata may be absent in some cases. Most patients are developmentally delayed. We describe seven new patients, including two with unusual cerebral manifestations and severe outcome. One of two had a complex congenital heart defect (CHD) and died in the neonatal period. Brain magnetic resonance imaging (MRI) showed generalized cortical dysplasia. The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M-CMTC is a generalized vasculopathy.
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PMID:Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. 1503 80

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.
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PMID:MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. 1608 Feb 91