CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature

Figure 1 Photographs of the index patient, her affected mother, great grandmother, and grandmother's brother. A: Index patient IV,1 (8 years old); B: Mother of the index patient III,2 (32.0 years old); C: Great grandmother of the index patient I,1 (91.0 years old); D: Grandmother's brother II,1 (58.0 years old).

Figure 2 Pedigree of the family. The proband (index IV,1) and her four affected family members (mother III; grandmother II,3; grandmother’s brother II,1; great-grandmother I,1) carried the mutation c.836G>A. The arrow indicates the index patient.

Figure 3 Sequencing map of CDKN1C gene c. 836G>A locus. The orange arrow indicates the mutation site. Both the proband and her mother were heterozygous mutations. The proband's father was normal.

Figure 4 Growth chart of the index patient. Black dots are postnatal height measurements, black arrows indicate initiation of recombinant human growth hormone treatment, and red dots indicate height measurements after growth hormone treatment.