Angular analysis of corpus callosum in 18 patients with frontonasal dysplasia

Abstract

-Considering the rarity of the frontonasal dysplasia (FD) and the few reports about it in a large casuistry using magnetic resonance image (MRI), we describe the results of the angular analysis of the corpus callosum of 18 individuals with FD (7 male, 11 female), using an easily-reproductive method. Group I had 12 individuals with isolated form and Group II had 6 individuals with FD syndromic with unknown etiology. The results are presented in set. Comparing with the control group, patients with FD presented alpha angle increase and beta and gamma angles reduction (p<0.05).Alpha and gamma angles express the relationship between the anterior portion of corpus callosum and the floor of 4 th ventricle. Considering the embryonary development, these findings would occur secondarily to failure during the development of nasal capsula. Thus, angular anomaly in corpus callosum would be a usual finding, and not fortuitous in patients with FD.KEY WORDS: corpus callosum, frontonasal dysplasia, magnetic resonance image, midline facial cleft. Análise angular do corpo caloso em 18 pacientes com displasia frontonasalRESUMO -Considerando a raridade da displasia frontonasal (DF) e os poucos estudos sobre esta condição clínica usando ressonân-cia magnética (RM), descrevemos os resultados da análise angular do corpo caloso em 18 indivíduos com DF (7 homens, 11 mulheres), usando um método de fácil reprodução. O Grupo I foi formado por 12 indivíduos com DF isolada e o Grupo II, por 6 portadores de DF sindrômica de etiologia desconhecida. Não houve diferença entre os grupos, e os dados são apresentados em conjunto. Comparando com o grupo controle, houve aumento significativo do ângulo alfa e redução dos ângulos beta e gama (p<0,05) Os ângulos alfa e gama expressam a relação entre a porção anterior do corpo caloso e do piso do 4º ventrículo. Esses achados radiológicos poderiam ocorrer secundariamente à falência do desenvolvimento da cápsula nasal. Assim, as anomalias angulares no corpo caloso poderiam ser um achado usual, e não fortuito, na DF. PALAVRAS-CHAVE: corpo caloso, displasia frontonasal, ressonancia magnética, fenda facial mediana.Frontonasal dysplasia (FD) is a rare group of disorders, characterized by ocular hypertelorism and frontonasal process anomalies [1][2][3] in which clinical and etiological heterogeneity have been recognized since the first review 4 . Several central nervous system (CNS) anomalies are mentioned in this condition, such as frontal encephalocele, myelomeningocele, Chiari's malformation, hydrocephalus and Corpus callosum anomalies [5][6][7][8][9] . A morphometric method based on measurement of five angle in order to perform a morphological analysis of the corpus callosum in craniofacial malformative syndromes was described 10 . This method was used in 34 patients with different condition, including one with FD.In this article, we describe the angular analysis of 18 individuals with FD. METHODWe evaluated 18 individuals (7 males and 11 females) affected by FD. Minimum inclusion criteria were ocul...

Malformations of Cortical Development in Patients with Midline Facial Defects and Ocular Hypertelorism

“…Despite the inclusion of some individuals in other CNS studies carried out by the same researchers (Giffoni et al, 2004, Gil-da-Silva-Lopes and Giffoni, 2006; Giffoni et al, 2006b), additional brain abnormalities were found in all of them. This fact is explained by the use of a high-resolution MRI with thin cuts and detailed multiplanar reconstruction.…”

“…We studied 17 patients, with ages ranging from 2 to 31 years (mean age = 7.5 years), who were previously evaluated by two clinical geneticists. Some of them participated in other studies conducted by the same researchers (patients 1, 2, 3, 8, 12, 14, 15, and 16) (Giffoni et al, 2004; Gil-da-Silva-Lopes and Giffoni, 2006; Giffoni et al, 2006b). The criterion of inclusion was frontonasal anomalies in accordance with van der Meulen morphogenetic classification (Van der Meulen et al, 1983).…”

“…A complex disorder characterized by MFDH, neuronal migration error, and lymphedema of limbs was described in one individual (Gil-da-Silva-Lopes et al, 2004). Frontal positioning of corpus callosum was detected in a series of 18 individuals with MFDH, suggesting that it would be a usual finding in this condition (Giffoni et al, 2004). It should be reinforced that CNS abnormalities are detected in isolated and syndromic forms in the same proportion (Gil-da-Silva-Lopes and Giffoni, 2006).…”

Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: Report of 10 Brazilian male patients

“…Cohen 1979 observed that frontonasal dysplasia was etiologically heterogeneous and reported the first mother and daughter with a newly recognized disorder that he named craniofrontonasal dysplasia, which is now known to be caused by EFNB1 mutations [Twigg et al, 2004]. Many articles have addressed the variable findings in frontonasal dysplasia [Naidich et al, 1988; Sedano and Gorlin, 1988; Guion‐Almeida et al, 1996; Guerrini and Dobyns, 1998; Giffoni et al, 2004; Wu et al, 2007]. The pattern of facial involvement is variable ranging from cases with a mild form of hypertelorism to cleft face malformation [DeMyer, 1967; Sedano et al, 1970; Sedano and Gorlin, 1988].…”

A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up

“…Abnormalities of corpus callosum, particularly lipomas and calcification, are the most common CNS defect associated with MFDH 1,37,42 ; the angular analysis of corpus callosum of MFDH individuals suggested that positional anomalies of this structure are intrinsically related to this condition 46 . The advent of magnetic resonance image (MRI) brings new possibilities for a structural investigation.…”