P09.13: Foetal akinesia deforming sequence: two different genetic syndromes

diagnosed prenatally. Pregnant aged 32 years old, the couple are cousins, and they had other 2 healthy children. It was the first time that went to the urgencies of our hospital; the gestational age was 34+6 weeks and she had spontaneous amniorrhexis four hours before. The following echographics findings are observed: agreed fetus with amenorrhoea, polyhydramnios with very dense amniotic fluid that produces level by its deposit in parts declivities, fetus in attitude of flexion with little mobility, very ecogenic fetal tegument, of redundant aspect mainly at level of back and members. Depressed nasal bridge. Other malformations were not seen and congenital icthyosis was suspected. 12 hours later, a woman of 2800 gr of weight was born by caesarean section, without external or internal malformations, except for a generalized hyperkeratosis distributed in plates. After the birth a progressive fall of the hyperkeratosic plates took place, being heavy, rough and dry skin. At the moment, the baby counts 2 months of age and she is well, being pending some specific studies (hystopatologics and ultrastructural studies of the skin). The prenatal and postnatal images are contributed.