Figure 1 Detection and location of TOMM7 mutations in the patient(A) Anterior view of the patient at 31 months of age, showing severe short stature and relative macrocephaly. (B) Length and weight of the patient from birth to 31 months before human growth hormone administration. Growth velocity was normal before 6 months and substantially slowed thereafter. Length and weight continued to be monitored. Growth arrested between 24 and 31 months of age. Red dots represent length; orange dots represent weight. (C) Head circumference measurements at 10, 14, and 31 months. These values were between the 25th and 5th percentiles compared with normal reference standards. (D) View of the patient’s hand, showing relatively broad hands with a distinctive shape and small, dystrophic nails. (E) Sanger sequencing of the TOMM7 variant revealed that the patient carried a homozygous mutation inherited from his parents (c.86C>T, p.Pro29Leu) (red box). (F) Radiograph of the spine showing anterior beaking of several vertebrae (black arrows). (G) Left-hand radiograph at 31 months of age, indicating a skeletal age of approximately 2 years. (H) Representative cerebral magnetic resonance imaging images of the patient.