Support for a socially high-risk neonate with cleidocranial dysplasia

Abstract

 Cleidocranial dysplasia（CCD）is a rare autosomal dominant inherited disorder that is characterized by skeletal dysplasia, such as delayed closure of cranial sutures, hypoplastic clavicles, and late erupting secondary dentition. We present a case of CCD in a female full-term infant weighing 2,272 g at birth. She had abnormally large, wide-open fontanelles and hypoplastic clavicles. The diagnosis of CCD was confirmed by array comparative genomic hybridization, which revealed 6p partial deletion involving Runt related transcription factor 2（RUNX2）. Her parents were facing social issues, also had psychiatric disorders, with no caretakers in their family. We held conferences consisting of medical doctors, midwives, nurses, medical social workers, and public health staffs to discuss about the preparation for her discharge. She was discharged at 4 months of age in cooperation with the support team. However, even after the discharge, team support was required to help maintain and evaluate the child care environment by her parents. We anticipate that this interdisciplinary approach for a socially high-risk family will lead to better child-family safety and prevent or minimize abuse on children who need special care, such as those with CCD.