KLHL7-related Bohring-Opitz-like syndrome

A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome, like intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly, synophrys, high myopia and cycling emesis are, on the contrary, very rarely described.