Spot Diagnosis

Congenital midline malformation in a newborn

Ana Rita de Matos Ramos1, Odete Madalena Rodrigues Mingas2, Maria Filomena Peres Lourenço Cardosa3, Maria da Graça Gomes Cantante Nogueira dos Santos2, Luís Miguel Estrade Abecasis2
1Department of Paediatrics, Hospital Garcia de Orta E.P.E, Almada, Portugal, 2Hospital de Santa Cruz, Centro Hospitalar de Lisboa Ocidental E.P.E, Carnaxide, Portugal, 3Department of Paediatrics, Hospital Garcia de Orta E.P.E., Almada, Portugal

Address for Correspondence: Avenida Torrado da Silva, 2805-267, Almada, 000000, PORTUGAL
Keywords : Congenital malformation, sternal cleft, musculoskeletal abnormalities, cardiac defect
Question :
A full-term boy was born following an uncomplicated pregnancy with normal prenatal ultrasound findings. After birth on examination an U-shaped upper sternal cleft, with atrophic skin covering the defect and a small area not covered by skin was seen. There was a two centimeters gap between the sternal laminae. A mediane abdominal raphe extended from the sternal defect to the umbilicus was also seen (Figure 1). A cardiac murmur was detected during auscultation. No other abnormalities were acknowledged on physical examination. A transthoracic echocardiography was performed which revealed a large perimembranous interventricular communication, right midventricular obstacle and an ostium secundum interauricular communication. He started to follow-up in pediatric cardiology and cardiothoracic surgery consultations. He had chronic heart failure and failure to thrive. At 5 months of age, primary closure of the sternal cleft along with correction of heart defect was performed. Currently, two years post surgery, he is asymptomatic, with adequate height-weight progression.

Figure 1. Mediane abdominal raphe extended from the sternal defect to the umbilicus.
Figure 1. Mediane abdominal raphe extended from the sternal defect to the umbilicus.

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