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

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

The proband	The case in the literature	The patient in current study
Gender	Male	Female
Age (yrs)	19-year-old	1-year-old	7-year-old
Craniofacial features
Facial dysmorphology	+	+	+
Micrognathia	–	+	+
Periodontal disease	+	–	+
Cognitive/sensory function
Developmental delay	–	+	+
Neurologic symptoms	+	+	+
Hearing deficit	+	+	+
General physical features
Short stature	+	+	+
Congenital heart defect	PDA, VSD	PDA, VSD	repaired CHD
Polycystic kidneys	–	–	+
Joint hyperlaxity	+	+	+
Radiographic abnormalities
Acroosteloysis	+	–	+
Osteoporosis	+	–	+
Wormian bones	+	+	+
Bowing of the fibula	–	–	+
Vertebral compression	–	–	–
Additional features
Dysmorphic sternum	–	–	+
Metatarsal fracture	–	–	+

PDA patent ductus arteriosus, VSD ventricular septal defect, CHD congenital heart disease

ISSN: 1471-2474