Structural morphological characteristics and craniofacial development in

background 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 We 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. Introduction Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) was recently described by Moore et al. [1997] and Clayton-Smith et al. [1997] as an entity distinguished from cutis marmorata telangiectatica congenita. It is characterised by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, non obstructive hydrocephalus, hypotonia, mental retardation, both generalised and facial capillary malformations (nevus flammeus in the philtrum area), cutis marmorata, ligamentous hyperlaxity, syndactyly, variously represented in affected subjects. Diagnosis is established by the presence of major and minor clinical criteria [Franceschini et al., 2000; Robertson et al., 2000; Lapunzina et al., 2004]. To date 76 cases of M-CMTC have been reported. The aetiology of M-CMTC remains unknown. A slight prevalence of males over females is observed (42:M, 33:F) [Lapunzina et al., 2004; Katugampola et al., 2008]. Siblings or other relatives have not been reported to be affected by the syndrome, supporting the hypothesis of autosomal dominant transmission. Some chromosomal abnormalities have been reported: one case of mosaicism on skin fibroblasts [Bottani et al., 2000], one case with a 16q deletion [Cristaldi et al., 1995] and more recently a case with a 2:17 translocation (p11;p13) [Stoll et al., 2003]. Diagnosis remains essentially clinical, taking the variable genetic expressivity of the syndrome into account. In 2000 two groups proposed diagnostic criteria, Franceschini et al. [2000] indicated macrocephaly and at least one of the following: overgrowth, CMTC, internal organs angiomatosis, polydactyly, syndactyly, asymmetry. Robertson et al. [2000] proposed congenital macrocephaly and cutis marmorata teleangiectatica as major criteria and required the presence of at least four minor criteria among neonatal hypotonia, development retardation, connective tissue anomalies, marked frontal bossing, nevus flammeus, syndactyly, segmental overgrowth and hydrocephalus. In 2004 Lapunzina et al. [2004] reviewed the literature and presented 6 new cases, classifying the various components of the syndrome into very frequent (i.e. observed in more than 75% of cases), frequent (25-75%) and less frequent (<25%), as shown in Table 1. Differential diagnosis includes other syndromes characterised by overgrowth and especially macrocephaly. The most commonly observed Structural morphological characteristics and craniofacial development in macrocephaly-cutis marmorata telangiectatica congenita