A 24-year-old woman was referred to our hospital for an anaemia with thrombocytopenia worsening since 3 months at 36 amenorrhoea weeks of her first pregnancy. She had no significant past medical history. However, a macrocytosis (mean corpuscular volume (MCV), 113 fL) investigated one year earlier remained unexplained. Her body mass index was 18.2 kg/m2 (1.48 m; 40 kg). The physical examination revealed skin hyperpigmentation (“café-au-lait” spots) of the trunk, left thumb deformity (Fig. 1a) and triangular facial dysmorphia with micrognathia (Fig.
