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

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 one novel case was reported in 2002 since 1990 when Lin-Gettig syndrome was first identified. These cases have diverse characteristics. The patient who presented with growth failure and his brother with similar clinical characteristics who recently died were considered as compatible with Lin-Gettig syndrome. In addition, our cases have differential clinical characteristics compared to all previous 3 cases in some degree and double nuchal fold and nail hypoplasia were novel features. We will discuss these cases as it is an extremely rare entity.