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Isolated Idiopathic Fetal Hypocalvaria
Marc V. Orlando, MD, Ananth S. Murthy, MD, FACS
Summa Health System
2014-02-27
Presenter: Marc V. Orlando, MD
Affidavit:
Director Name: Douglas S. Wagner, MD
Author Category: Resident Plastic Surgery
Presentation Category: Clinical
Abstract Category: Craniomaxillofacial
Introduction: Cranial sutures permit the overlap of calvarial bones during birthing and cranial expansion to accommodate the growing, postnatal brain. Widened sutures and large, persistent fontanelles have been associated with several inherited disorders, congenital hypothyroidism and prenatal exposure to ACE inhibitors. However, documented hypocalvaria without additional phenotypic abnormalities, atypical laboratory findings, or teratogen exposure has not been reported. We present such a case of Isolated Idiopathic Fetal Hypocalvaria.
Case description: A 3430g male was delivered at 41 weeks gestation to a healthy 28 year-old female. Physical examination was notable for an elongated head with abnormally large, patent fontanelles and a widely split metopic suture. Radiography confirmed poor calvarial ossification. A skeletal survey and routine blood analysis were normal. At 7 weeks of age, the calvarial defect measured 1.7cm x 6.5cm extending posteriorly from the anterior fontanelle. At 24 weeks, a CT identified pansutural patency with enlarged anterior fontanelle and intrasutural wormian bones. Cranial orthotic helmet therapy was initiated. At 36 months, the calvarial defect had closed. CT demonstrated age-appropriate metopic suture fusion, small anterior fontanelle patency and multiple wormian bones along sagittal and lambdoid sutures. Like that of her son, a maternal skeletal survey was normal, but head CT suggests wormian calvarial bones.
Discussion: This case provides a rare example of an isolated idiopathic calvarial deficiency of a newborn. It is plausible that dysregulation of cranial bone signaling pathways led to a failure of ossification. Despite this, ossification did proceed without surgical intervention and long-term developmental deficits are not anticipated.
