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Table 2 Clinical features of two HCS patients carrying mutation c.6426dupT of NOTCH2

From: Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review

The probandThe case in the literatureThe patient in current study
 Age (yrs)19-year-old1-year-old7-year-old
Craniofacial features
 Facial dysmorphology+++
 Periodontal disease++
Cognitive/sensory function
 Developmental delay++
 Neurologic symptoms+++
 Hearing deficit+++
General physical features
 Short stature+++
 Congenital heart defectPDA, VSDPDA, VSDrepaired CHD
 Polycystic kidneys+
 Joint hyperlaxity+++
Radiographic abnormalities
 Wormian bones+++
 Bowing of the fibula+
 Vertebral compression
Additional features
 Dysmorphic sternum+
 Metatarsal fracture+
  1. PDA patent ductus arteriosus, VSD ventricular septal defect, CHD congenital heart disease