Table 1. Comparison of clinical features of the affected individuals and RECQL4 related disorders .

Features	Patient-1	Patient-2	RTS	RAPADILINO syndrome	Baller–Gerold syndrome
Low birth weight	+	+	+	+	+
Poor growth	+	+	+	+	+
Facial features, palatal defects	Pointed nose, fine eyebrows, receding chin, no palatal defects	Small pointed nose, fine eyebrows, smooth philtrum, thin upper lip, no palatal defect.	Pinched nose, sparse hair, fine eyebrow, palatal defects reported in few patients.	Palatal defects present	Saddle nose, small mouth with thin vermilion border, high arched palate.
Radial defects	−	+	+	+	+
Osteopenia and fractures	+	−	+	+	−
Poikiloderma	+	+	+	−	+
Café au lait spot	−	−	−	+
Craniosynostosis	−	−	−	−	+
Patellar abnormalities	−	−	+	+	+
Alopecia and sparse eye brows/ eyelashes	+	+	+	–	−
Eye abnormality	−	−	Cataract	Blepharophimosis	Proptosis (secondary to craniosynostosis)
Gastro intestinal abnormalities (recurrent diarrhea)	−	+	+	+	−

Abbreviations: RTS, Rothmund–Thomson syndrome; RAPADILINO, radial ray defect, patellar aplasia, diarrhea, little size and limb anomalies, slender nose and normal intelligence, “−” absent, “+” present.