Fig. 1From: Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case reportPanel (a) shows the pedigree chart of the patient. Panels (b) and (e) show clinical features of the CTCF mutation in the patient, which include numerous dysmorphisms such as microbrachycephaly, narrow forehead highly arched and bushy eyebrows, deep-seated eyes, broad nasal tip with wide everted nostrils, prominent incisors, and large ears with dysplastic helix and attached ear lobes. Panels (c) and (d) are X-ray radiographs showing the presence of diffuse generalized osteopeniaBack to article page