PMC6447649_01
Clinical characteristics and gene sequencing results of the patient and his family members. (A) Digital radiography of the hands. The phalanges and humeral metaphysis are fused, indicating an age of 14-15 years. (B) Pedigree of the patient and gene sequencing results. The father is a heterozygous carrier of the P857T mutation in the COL1A2 gene. The mother is a heterozygous carrier of the R220X mutation of the COL1A1 gene. The twin brothers are heterozygous carriers of the above two mutations. (C) Light blue sclera of the patient. (D) Magnetic resonance imaging of the pituitary of the patient, indicating reduced morphology of the anterior lobe, absence of the pituitary stalk, and displacement of the neurohypophysis to the infundibulum (red arrow).
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F1
BMI, 20.70 kg/m2; arm span, 153 cm; upper body height, 67 cm; lower body height, 91 cm; triangular face; light blue sclera (Figure 1C); lack of facial hair; lack of Adam's apple; lack of underarm hair; lack of thyroid swelling; carinatum; enlarged breasts; palpable breast nodules; mild tenderness; lack of galactorrhea; lack of pubic hair; a stretched penis length of 4 cm. Both testes were palpable within the scrotum bilaterally. Digital radiography of both hands indicated his skeletal age to be 14 years (Figure 1A). Magnetic resonance imaging of the pituitary gland showed reduced morphology of the anterior pituitary, absence of a pituitary stalk and ectopic displacement of the posterior lobe to the infundibulum (Figure 1D). The results revealed that the identical twins harbor heterozygous mutations in COL1A1 (c.658C>T, p.Arg220Ter) and COL1A2 (c.2569C>A, p.Pro857Thr). The mother harbors the same COL1A1 mutation (p.Arg220Ter) and the father harbors the COL1A2 (p.Pro857Thr) mutation (Figure 1B).