Two novel features in Lin-Gettig Syndrome: Double nuchal fold and nail hypoplasia

Abstract

We presented two brothers with craniosynostosis, severe mental retardation,atypical facial appearance, camptodactyly and hypogonadism. In the literature,Lin-Gettig syndrome has been identified in 3 patients so far. To date, only onenovel case was reported in 2002 since 1990 when Lin-Gettig syndrome was firstidentified. These cases have diverse characteristics. The patient who presentedwith growth retardation and his brother with similar clinical characteristicswho recently died were considered as compatible with Lin-Gettig syndrome. Inaddition, our cases have differential clinical characteristics compared to allprevious 3 cases in some degree and double nuchal fold and nail hypoplasia werenovel features. We will discuss these cases as it is an extremely rare entity.