Superior Sternal Cleft Associated With PHACES Syndrome

Abstract

ternal cleft is a rare congenital malformation caused by complete or partial failure of the sternum to fuse during the third month of embryologic development. Cleft sternums can be classified as superior, inferior, or complete. Sternal clefting is also associated with the PHACES syndrome, a neurocutaneous syndrome consisting of posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, cardiac defects, eye abnormalities, and sternal clefting with or without abdominal raphae. We present the case of a 1-day-old girl who was born at our institution with a variant of the PHACES syndrome. Although the sternal cleft was evident clinically, sonography provided additional information compared with plain radiography in showing the extent of the anterior chest wall abnormalities. The literature on this rare condition is reviewed.

Prenatal ultrasonography and neonatal imaging of complete cleft sternum: a case report

“…The defective chest wall shows indrawing on inspiration. Symptoms vary according to the severity of geometric distortion of the cardiovascular system and lung volume changes as well as to the associated defects1, 2, 4–8. Infants may develop symptoms of right ventricular overload, cyanosis, dyspnea and arrythmias.…”

Congenital absence of sternum in an infant

“…These patients are at increased risk of mediastinal injury, hypothermia and insensible fluid losses 2 3. It may be associated with Cantrell's pentalogy, PHACES syndrome and Poland syndrome.…”

“…It may be associated with Cantrell's pentalogy, PHACES syndrome and Poland syndrome. Reconstructive surgery of absent sternum should be performed by primary closure using combined periosteal advancement flap and sliding osteochondroplasty during the neonatal period when the chest wall is highly compliant and closure can be achieved without significant cardiopulmonary compromise 2 3Learning points

Congenital absence of the sternum is a rare malformation of the chest wall which results from failure of the process of midline mesenchymal strip fusion during embryonic development.

Patients with complete sternal cleft are at increased risk of mediastinal trauma, hypothermia, increased insensible fluid losses, cyanosis and recurrent infections of the chest.

With increasing age, surgical correction becomes difficult due to a decrease in compliance of the chest wall necessitating early surgical correction in the neonatal period.

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“Pitted” lesions in dermatology

“…36,37 Nevus comedonicus usually presents at birth as linear, grouped, or systematized dilated follicular openings with keratin plugs (Fig. 38 Congenital dermoid fistula of the anterior chest wall presents as a pit around the sternoclavicular joint representing the external end of the fistulous tract lined by epithelium similar to that of skin, which extends caudally into the sternum. 38 Congenital dermoid fistula of the anterior chest wall presents as a pit around the sternoclavicular joint representing the external end of the fistulous tract lined by epithelium similar to that of skin, which extends caudally into the sternum.…”

“…8). 38 Congenital dermoid fistula of the anterior chest wall presents as a pit around the sternoclavicular joint representing the external end of the fistulous tract lined by epithelium similar to that of skin, which extends caudally into the sternum. 39 Sacral dimples are commonly seen as isolated defects without underlying bony defects ( Fig.…”