Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita.

AIM: 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.

CASE REPORT: The authors report a case of M-CMTC evaluated from the genetic standpoint and that of craniofacial development. The aim was to analyse the patient's clinical development and to plan orthopaedic and surgical treatment, focused on detecting and correcting structural and/or functional maxillomandibular anomalies that are likely to worsen over time. As M-CMTC is a typical morphostructural anomaly found in many patients with macrosomia, increased knowledge of the problem and awareness of the related complications appeared useful so as to tackle them appropriately. Orthopaedic treatment partially corrected the asymmetry and reduced the structural discrepancy, avoiding or at least simplifying surgical treatment on completion of growth.