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.
<b>Figure 1.</b> Mediane abdominal raphe extended from the sternal defect to the umbilicus.

What are sternal clefts? What is the best approach?

Discussion :
Sternal clefts are a rare congenital malformation, with an incidence of <0.15%, that results from a failure in the fusion of the sternal bands at an early stage of embryonic development.1,2 It may present isolated (27%) or be associated with other malformations (73%) such as hemangiomas, PHACES syndrome, cantrell pentade, abdominal raphe or cardiovascular abnormalities.3,4 When associated with cardiac abnormalities, the prognosis may be unfavorable.1 Patients are usually asymptomatic in the neonatal period. On physical examination, a paradoxical midline thoracic bulging with protrusion of the mediastinal viscera during expiration may be seen. If not timely diagnosed and treated, respiratory symptoms (dyspnea and cough), impaired gas exchange or lung infections may arise.4,5
Surgical correction is therefore recommended and should be performed early because the greater sternal plasticity allows for primary closure without the use of autologous grafts/prosthetic material.1 Indications for surgery are not only cosmetic but also for the improvement of respiratory dynamics, protection of mediastinal structures from direct injury and positive impact on growth.6

References :
  1. Zamfir C, Zamfirescu A, Tanase C, et al. Sternal cleft e A rare congenital malformation. J Ped Surg Case Reports 2014;2:97-100.
  2. Olusoji OO, Sanni SB, Omodara OO, et al. Isolated sternal cleft in a patient with atrial septal defect: A rare sole association. Niger Postgrad Med J 2017;24:60-63.
  3. Ramdial S, Pillay D, Madaree A. Primary Closure of A Sternal Cleft in A Neonate. World J Plast Surg 2016;5:308-312.
  4. Klein T, Kellner M, Boemers T, et al. Surgical Repair of a Superior Sternal Cleft in an Infant. Eur J Pediatr Surg Rep 2015;3:64-67.
  5. Torre M, Rapuzzia G, Carlucci M, et al. Phenotypic spectrum and management of sternal cleft: literature review and presentation of a new series. European Journal of Cardio-Thoracic Surgery 2012; 41:4-9.
  6. Dumitrescu A, Ryan C, Green A. Sternal Cleft Malformation in a Newborn. BMJ Case Rep 2017;2:1-2.

Correct Answers : yes  100%

Last Shown : Nov 2022
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