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Congenital sternal cleft - isolated or a possible PHACES syndrome?

Sara Geitoeira¹, João Sousa Marques¹, Ana Cristina Gomes², Elson Salgueiro³, Rita Moita^2
1Pediatrics, Unidade Local de Saúde de Viseu Dão-Lafões, Viseu, Portugal, ²Neonatal Intensive Care Unit, Unidade Local de Saúde de São João, Porto, Portugal, ³Cardiothoracic Surgery, Unidade Local de Saúde de São João, Porto, Portugal

Address for Correspondence: Sara Geitoeira, Av. Rei Dom Duarte, 3504-509 Viseu, Portugal.
Email: sarageitoeira@hotmail.com
Keywords : Congenital defect, Congenital sternal cleft, PHACES association, Sternal nonunion with supraumbilical raphe, Sternal cleft
Question:
The authors describe a case of a female full-term baby born by vaginal delivery with Apgar scores of 9 at 1 minute and 10 at 5 minutes. The immediate physical examination revealed a skin defect from the xiphoid process, which was visible through the superficial fascia, that extended to the umbilical cord (Figure 1). The pregnancy was monitored and uneventful and there was no prenatal diagnosis. A 3 cm wide hemangioma was noted on the dorsal region and a discontinuity of the right collar bone was palpable. The baby was admitted to the intensive care unit for surveillance and evaluation. The chest and abdominal radiographs did not reveal any other malformations. Echocardiogram showed a normal cardiac structure with a small restrictive patent ductus arteriosus and a patent foramen ovale. Thoracic computed tomography confirmed a bifidity of the manubrium (maximum distance of 4,1 mm, Figure 2), a medial cleft from the sternal body to the xiphoid process and a median defect of the abdominal wall that extended to the umbilical cord. Abdominal ultrasound confirmed supraumbilical abdominal rectus diastasis with a maximum interrectus distance of 11 mm. By the 10th day of life there was a partial epithelization of the wound (Figure 3) and she was discharged home, without any other complication, with a complete healing of the skin defect observed two months later.

Figure 1. Incomplete superior sternal cleft with visible skin defect from the xiphoid process to the umbilical cord.


Figure 2. Thoracic computed tomography revealing the bifidity of the manubrium (arrow).


Figure 3. Partial epithelization of the skin defect by 10^th day of life.

What is the most likely diagnosis?