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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

Fig. 1

Panel (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 osteopenia

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BMC Medical Genetics

ISSN: 1471-2350

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