[Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family]

In 1974 Pena and Shokeir described an early lethal disorder (OMIM 208150) that was characterised by neurogenic arthrogryposis, facial abnormalities and pulmonary hypoplasia. It has recently been suggested that it is secondary to the reduction of movements in the uterus due to an intrinsic pathology regardless of the cause (FADS, foetal akinesia deformation sequence). Klippel-Feil (K-F) syndrome (OMIM 118100) is defined by the congenital fusion of one or two cervical vertebrae, and clinically manifests as a shortened neck, with limited head movements, and may also be associated to other malformations.

We report the case of a family diagnosed with K-F syndrome type II. It was observed in the father and one daughter; another child presented Pena-Shokeir type I and died during the neonatal period. Both siblings presented anomalies in the central nervous system.

The incidence of FADS syndrome is 1/10,000 deliveries and that of K-F syndrome is between 1/35,000 and 1/42,000 births. We reviewed the literature on FADS syndrome and no familiar association with K-F syndrome was found among its causes. Our aim is to report that an association between the two conditions is possible, which is very important for establishing suitable genetic counselling.