You are here

  • Home
  • Online First
  • Newborn with isolated severe deficiency of cranial vault ossification: a case of cleidocranial dysplasia

Article Text

Article menu
Download PDFPDF
Images in neonatal medicine
Newborn with isolated severe deficiency of cranial vault ossification: a case of cleidocranial dysplasia
  1. Elena Borelli1,
  2. Salvatore Aversa1,
  3. Mario Motta1,
  4. Elisa Cavalleri1,
  5. Claudio Cereda2,
  6. Lorenzo Pinelli3,
  7. Alba Pilotta4,
  8. Francesco Maria Risso1
  1. 1 Neonatal Intensive Care Unit, Children's Hospital, ASST Spedali Civili di Brescia, Brescia, Italy
  2. 2 Neurosurgery Unit, ASST Spedali Civili di Brescia, Brescia, Italy
  3. 3 Neuroradiology Unit, Department of Diagnostic Imaging, Pediatric Neuroradiology Section, ASST Spedali Civili di Brescia, Brescia, Italy
  4. 4 Pediatric Clinic, Children's Hospital, ASST Spedali Civili di Brescia, Brescia, Italy
  1. Correspondence to Dr Elena Borelli, Neonatal Intensive Care Unit, Children's Hospital, ASST Spedali Civili di Brescia, Brescia 25123, Italy; elena.borelli1{at}gmail.com

http://dx.doi.org/10.1136/archdischild-2023-325794

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    A male infant was delivered vaginally at 37+4 weeks after an uncomplicated pregnancy with normal antenatal ultrasonography. An abnormal head shape was noted, with normal head circumference, reduced biparietal diameter, orbital hypertelorism, short philtrum and microretrognathia (figure 1A–C). The skull felt soft when palpated. The rest of physical examination was normal. An X-ray (figure 1D), MRI and three-dimensional CT scan reconstruction of the skull (figure 1E,F) showed a severe defect in ossification of the calvaria and widely enlarged sutures. A skeletal survey showed no other abnormalities. Trio whole-exome sequencing identified p.Ser124ter …

    View Full Text

    Footnotes

    • Contributors EB collected the patient data, performed a detailed literature search, drafted the initial manuscript and edited the manuscript according to feedback of the other authors. SA, EC and AP participated in the diagnosis of the patient and were involved in the management of clinical case. LP examined and interpreted MRIs. MM, CC and FMR contributed to the analysis and interpretation of data, and reviewed the manuscript. All authors have been involved in the patient’s care, approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; internally peer reviewed.