Patients

The inclusion criteria included concurrent presentation of common RSTS clinical characteristics (distinctive facial features, broadening of the thumbs and halluces, short stature) unexplained by other systemic syndromes (Figure 2). Five patients (3 males and 2 females) fulfilled the criteria and were enrolled for further molecular genetic diagnosis. Detailed clinical data of the cases were documented. 3/5 (60%) of the cases also had microcephaly, another common presentation of RSTS. Additional clinical findings relevant to RSTS, including cyanotic heart disease, pulmonary hypertension, intellectual disability, and other neurological impairments, were found in some cases. The clinical manifestations of each case enrolled in this study are summarized in Table 1. Ethics approval was granted by the Ethics Committee of National Cheng Kung University Hospital (A-BR-104-052). Informed consent was obtained from the patients’ parents. Peripheral blood specimens were collected from the patients. DNA was extracted using the Qiagen FlexiGene DNA Kit (Qiagen, Hilden, Germany) according to the manufacturer’s instructions.

Summary of causative genetic alterations found in this study.

*novel variant.

Clinical manifestations of the five RSTS cases. Positive findings of common RSTS characteristics, including distinctive facial features, and broadened thumbs and halluces, were noted in all of the enrolled cases. (A) case 1. (B) case 2. (C) case 3. (D) case 4. (E) case 5.