Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome—a case report

Thébault, Nathalie; Guern, H. Le; Fiblec, Bernard Le; Ferry, M.; Odent, Sylvie

doi:10.1002/pd.2117

Cited by 8 publications

(5 citation statements)

References 11 publications

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“…Torre et al 5 reported that primary closure of sternal cleft is preferred, possibly in the neonatal period when the chest wall is most compliant, thereby avoiding complex procedures, such as clavicular dislocation. 6 However, as in our case, it may be feasible to perform secondary repair of sternal cleft. Infants with complicated heart defects, especially those with very low birth weight, require staged surgery for cardiac anomalies, such as bilateral pulmonary artery banding and total cardiac correction, to control heart failure and hemodynamic instability prior to sternal cleft repair.…”

Section: Discussionmentioning

confidence: 57%

Staged Repair of Complete Sternal Cleft and Interrupted Aortic Arch Associated With PHACES Syndrome in a Very Low Birth Weight Infant

Kojima

Okamura

Shikata

et al. 2016

International Surgery

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Posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, and sternal malformations' (PHACES) syndrome comprises various defects that require a concrete therapeutic plan. Herein, we report a case of a very low birth weight infant with PHACES syndrome presenting complete sternal cleft, interrupted aortic arch with ventricular septal defect, and absence of communicating cerebral arteries. Due to the infant's very low birth weight, we planned staged surgery for this complex disease. First, bilateral pulmonary artery banding was performed to improve unstable hemodynamics. Then, after sufficient body weight was obtained, aortic arch and intracardiac repair was done. However, when the tracheal tube was removed 2 weeks after surgery, the patient could not breathe well due to paradoxical chest movement related to complete sternal cleft. Consequently, to improve chest wall compliance, the upper sternum was constructed with dislocated ribs. After these

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Section: Discussionmentioning

confidence: 57%

Staged Repair of Complete Sternal Cleft and Interrupted Aortic Arch Associated With PHACES Syndrome in a Very Low Birth Weight Infant

Kojima

Okamura

Shikata

et al. 2016

International Surgery

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“…Neither of the cases presented hemangioma and the rarity of cryptophthalmos are of particular note. Another prenatal case was reported by Thébault et al 10 that presented a complete sternal cleft. It was impossible to suspect the syndrome prenatally, given that it was an isolated finding.…”

Section: Discussionmentioning

confidence: 90%

In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI)

et al. 2012

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The acronym PHACE describes the association of facial hemangioma with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular alterations. This study presents a case of diagnostic suspicion based on fetal MRI. We report the case of a pregnant woman whose 26-week MRI revealed a female fetus with hypoplasia of the right cerebellar hemisphere and right microphthalmia, leading to the suspicion of PHACE syndrome. The diagnosis was confirmed at birth, together with other criteria: facial hemangioma, absent posterior inferior cerebellar artery, and dysplasia of the right internal carotid artery. To our knowledge, this is the first live case described prenatally with both ocular and cerebellar findings on fetal MRI that suggest PHACE syndrome. The prenatal presence of 2 PHACE criteria led to the suspicion of this syndrome, and prenatal diagnostic criteria might be developed to improve information regarding the prognosis of cerebellar malformations.

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“…Although ToF is not a major or minor criterion, it has been reported in association with PHACE in the past (1). Conversely, scrutiny of many of the patients reported to have PHACE shows that, in addition to large facial IH, some have also had hemangiomas of the torso or upper extremities, emphasizing the overlapping features of these clinical settings (2,9–11).…”

Section: Discussionmentioning

confidence: 99%

PHACE without Face? Infantile Hemangiomas of the Upper Body Region with Minimal or Absent Facial Hemangiomas and Associated Structural Malformations

Nabatian

Milgraum

Hess

et al. 2011

Pediatric Dermatology

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Infantile hemangiomas can be associated with congenital anomalies such as PHACE syndrome with facial hemangiomas and genitourinary and spinal anomalies in the setting of lower body hemangiomas. We describe five infants in whom segmental hemangiomas involving the upper torso and extremities with absent or small facial hemangiomas were associated with structural anomalies similar to those reported with PHACE syndrome, including three with structural arterial anomalies of the subclavian arteries, three with aortic arch anomalies (right sided or narrowed arch), two with congenital heart disease (atrial septal defect and ventricular septal defect; tetralogy of Fallot), one with a retinal scar, and one with a sternal defect (scar). Two of five had small facial hemangiomas of the lower lip, but none had large segmental hemangiomas of the face. Three of five would have met diagnostic criteria for PHACE but lacked a facial hemangioma of 5 cm in diameter or greater. Patients with segmental arm and thorax hemangiomas may have associated structural abnormalities with overlapping features of PHACE, suggesting that a similar syndrome can occur in this clinical setting.

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Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome—a case report

Cited by 8 publications

References 11 publications

Staged Repair of Complete Sternal Cleft and Interrupted Aortic Arch Associated With PHACES Syndrome in a Very Low Birth Weight Infant

Staged Repair of Complete Sternal Cleft and Interrupted Aortic Arch Associated With PHACES Syndrome in a Very Low Birth Weight Infant

In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI)

PHACE without Face? Infantile Hemangiomas of the Upper Body Region with Minimal or Absent Facial Hemangiomas and Associated Structural Malformations

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