Marfanoid habitus associated with hydrocephalus

Marfan syndrome is characterized by manifestations in three systems: skeletal, ocular and cardiovascular. There are no publications of typical Marfan syndrome patients associated with craniosynostosis or hydrocephalus. There are a series of publications of the association between craniosynostosis and marfanoid habitus, which led to the description of new syndromes: Loeys-Dietz types IA, IIA, IB e IIB and Shprintzen-Goldberg. Among those syndromes, there are cases of hydrocephalus, but they are typically associated with craniosynostosis. We describe two cases of patients with marfanoid habitus associated with hydrocephalus without craniosynostosis. The first patient presented with skeletal malformations with arachnodactyly, camptodactyly, malar hypoplasia in association with interatrial shunt, gastroparesis, mild mental retardation and symptomatic hydrocephalus. The other patient presented with marfanoid habitus associated with mild cognitive deficit and symptomatic hydrocephalus. None of those patients had craniosynostosis. Many phenotypic characteristics our patients presented resemble the craniosynostosis-marfanoid habitus syndromes. The absence of craniosynostosis raises suspicion on the possibility of occurrence of those syndromes with atypical characteristics or a new syndrome not yet described. We believe that the description of these cases may enlighten this discussion.