Hajdu-Cheney syndrome: Phenotypical progression with de-novo NOTCH2 mutation

摘要

Introduction: Hajdu-Cheney syndrome (HCS; MIM 102500) is a. rare genetic skeletal syndrome with autosomal dominant inheritance. It is characterized by acroosteolysis of the distal phalanges, generalized osteoporosis, craniofacial and dental anomalies, and proportionate short stature. It was first described by Hajdu and Kauntze (1948) and Cheney (1965). Brennan and Pauli (2001) reviewed HCS and described 52 cases that met their inclusion criteria. The inclusion criteria included acroosteolysis plus at least three of seven findings: wormian bones or open sutures of the skull, platybasia, premature loss of teeth, micrognathia, coarse hair, midface flattening, and short stature. Other associated findings include hearing loss, renal cysts, basilar invagination, and cardiovascular anomalies (Ramos et al., 1998; Isidor et al., 2011; Simpson et al., 2011).