Macrocephaly-capillary malformation syndrome: Three new cases

作者：Panigrahi Inusha^*; Bhushan Mani; Yadav Mukesh; Khandelwal Niranjan; Singhi Pratibha

来源：Journal of the Neurological Sciences, 2012, 313(1-2): 178-181.

DOI：10.1016/j.jns.2011.09.039

• Macrocephaly-capillary malformation
• Macrocephaly-cutis marmorata
• telangiectatica congenita M-CMTC
• Megalencephaly-cutis marmorata
• telangiectatica congenita
• Asymmetry
• Developmental delay
• Overgrowth syndrome
• Port-wine stains

Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly-Capillary Malformation (M-CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, joint laxity, thickened subcutaneous tissue and 2/3 syndactyly of the toes. We evaluated three patients who demonstrated characteristic features of the disorder. Patients seen in the Genetic clinic of a tertiary care center were subjects of the analysis. We present three cases of overgrowth syndrome with common features of macrocephaly, capillary malformation, dysmorphic face and abnormal neurocognitive profile. These features are consistent with the newly defined M-CM syndrome. This condition must be differentiated from other overgrowth syndromes for appropriate surveillance for known complications and genetic counseling. We discuss the diagnostic criteria for the disorder and also recommend to include typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, considering it as minor criterion on the basis of findings in present cases. One of the cases had bluish white iris which has not been described earlier.

• 出版日期2012-2-15