American journal of medical genetics, 2004-09, Vol.130A (1), p.45-51
2004
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Details
- Autor(en) / Beteiligte
- Titel
- Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review
- Ist Teil von
- American journal of medical genetics, 2004-09, Vol.130A (1), p.45-51
- Ort / Verlag
- Hoboken: Wiley Subscription Services, Inc., A Wiley Company
- Erscheinungsjahr
- 2004
- Quelle
- Wiley Blackwell Single Titles
- Beschreibungen/Notizen
- 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. © 2004 Wiley‐Liss, Inc.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1552-4825, 0148-7299eISSN: 1552-4833, 1096-8628DOI: 10.1002/ajmg.a.30235Titel-ID: cdi_proquest_miscellaneous_66878223
- Format
- –
- Schlagworte
- Abnormalities, Multiple, Biological and medical sciences, Child, Child, Preschool, Craniofacial Abnormalities - pathology, cutis marmorata telangiectatica congenita, Dermatology, Diseases of the osteoarticular system, Female, General aspects, hemihypertrophy, Humans, hydrocephalus, Infant, Intellectual Disability - etiology, macrocephaly, Male, Malformations and congenital and or hereditary diseases involving bones. Joint deformations, Medical sciences, mental retardation, Nervous System Malformations, overgrowth syndrome, Psychology. Psychoanalysis. Psychiatry, Psychopathology. Psychiatry, review, Skull - abnormalities, Syndrome, Telangiectasis - congenital, Telangiectasis - pathology, tumors, Vascular disorders of the skin