PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels

2004 ◽  
Vol 14 (2) ◽  
pp. 206-209 ◽  
Author(s):  
Gerald Wendelin ◽  
Erwin Kitzmüller ◽  
Ulrike Salzer-Muhar
Keyword(s):  
Aortic Arch ◽  
Posterior Fossa ◽  
Coarctation Of The Aorta ◽  
Cardiac Defects ◽  
Vascular Abnormalities ◽  
Great Vessels ◽  
Neurocutaneous Syndrome ◽  
The Brain ◽  
Supraaortic Vessels ◽  
Arterial Anomalies

The acronym PHACES summarizes the most important manifestations of a rare neurocutaneous syndrome. Specifically, “P” accounts for malformation of the brain in the region of the posterior fossa, “H” stands for haemangiomas, “A” is for arterial anomalies, and “C” is for coarctation of the aorta along with cardiac defects, “E” is for abnormalities of the eye, and “S” for clefting of the sternum, and/or a supraumbilical abdominal raphe. Our objective is to introduce the syndrome to paediatric cardiologists. Our patient has stenosis of the aortic arch, multiple malformations of the great vessels arising from the aortic arch, intracranial vascular abnormalities, a sternal malformation with a supraumbilical raphe, and facial haemangiomas. We stress that it is important always to consider the existence of this syndrome in all patients with facial haemangiomas.

scholarly journals Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
T. M. Morgan ◽  
J. M. Colazo ◽  
L. Duncan ◽  
R. Hamid ◽  
K. M. Joos
Keyword(s):  
Genetic Testing ◽  
Posterior Fossa ◽  
Case Reports ◽  
Infantile Hemangioma ◽  
Cardiac Defects ◽  
Case Presentation ◽  
Female Patients ◽  
Phace Syndrome ◽  
Diagnostic Criterion ◽  
Arterial Anomalies

Background. Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for PHACE, but not for OFCD. A previous study reported two cases of infantile hemangiomas in OFCD, but the authors could not exclude chance association. Case Presentation. We describe two novel cases of female patients (one initially diagnosed with PHACE syndrome), both of whom had infantile hemangiomas. Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome. Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. Conclusion. These case reports add support to the hypothesis that infantile hemangiomas may be a feature of OFCD. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation.

scholarly journals PHACE Syndrome: Persistent Fetal Vascular Anomalies

2005 ◽  
Vol 11 (4) ◽  
pp. 355-361 ◽  
Author(s):  
V. Prochazka ◽  
T. Hrbac ◽  
J. Chmelova ◽  
D. Skoloudik ◽  
M. Prochazka
Keyword(s):  
Posterior Fossa ◽  
Posterior Cranial Fossa ◽  
Vascular Anomalies ◽  
Cardiac Defects ◽  
Phace Syndrome ◽  
Cranial Fossa ◽  
Arterial Anomalies

PHACE(S) syndrome is an acronym for neurocutaneous disease encompassing the expression of (P) posterior cranial fossa malformations, (H) facial haemangiomas, (A) arterial anomalies, (C) aortic coarctaion and other cardiac defects, (E) eye abnormalities and (S) for sternal malformation or stenotic arterial diseases. We report on a case of PHACE syndrome complete expression with persistent fetal vascular anomalies unusually in a 55-year-old women with large bilateral facial and neck haemangioma and posterior fossa circulation insufficiency.

Truncus arteriosus communis in combination with cor triatriatum sinsitrum

2015 ◽  
Vol 26 (1) ◽  
pp. 194-196
Author(s):  
Elmar Klusmeier ◽  
Nikolaus A. Haas ◽  
Eugen Sandica
Keyword(s):  
Surgical Treatment ◽  
Aortic Arch ◽  
Septal Defect ◽  
Coarctation Of The Aorta ◽  
Venous Drainage ◽  
Truncus Arteriosus ◽  
Unique Case ◽  
Cardiac Defects ◽  
Hypoplastic Aortic Arch

AbstractTruncus arteriosus communis is a rare CHD, accounting for only 1% of all congenital cardiac abnormalities. It has been associated with other malformations of the heart, mainly truncal valve (bicuspid/quadricuspid) and aortic arch abnormalities such as right, interrupted, and hypoplastic aortic arch. Cor tratriatrum sinistrum is another rare CHD, and it has been associated with other cardiac defects such as anomalous pulmonary venous drainage, ventricular septal defect, coarctation of the aorta, and tetralogy of Fallot. The combination of truncus arteriosus communis and cor tratriatrum sinistrum has not been reported so far. This case study describes the diagnosis of a unique case, including these two very rare cardiac defects and the successful surgical treatment thereafter.

A rare combination of post-ductal coarctation of the aorta and adjunct tortuous aneurysm: a neonate with Posterior fossa anomalies, Haemangiomas of the head and neck, Arterial, Cardiovascular, and Eye anomalies and ventral developmental defect syndrome

2022 ◽  
pp. 1-3
Author(s):  
Otohime Mori ◽  
Keiichi Fujiwara ◽  
Hisanori Sakazaki
Keyword(s):  
Cardiopulmonary Bypass ◽  
Aortic Aneurysm ◽  
Head And Neck ◽  
Aortic Arch ◽  
Posterior Fossa ◽  
Aortic Coarctation ◽  
Ductus Arteriosus ◽  
Coarctation Of The Aorta ◽  
Developmental Defect ◽  
Rare Combination

Abstract A 4-day-old girl with Posterior fossa anomalies, Haemangiomas of the head and neck, Arterial, Cardiovascular, and Eye anomalies and ventral developmental defect syndrome comprising a facial haemangioma, aortic coarctation at the aortic arch, torturous aortic aneurysm distal to coarctation, and ductus arteriosus originating proximal to the coarctation is presented. The aortic arch was successfully reconstructed without cardiopulmonary bypass, and she is currently doing well after 4 years and 8 months.

Congenital hemihypertrophy and abnormalities of the cerebral vasculature

1984 ◽  
Vol 61 (1) ◽  
pp. 163-168 ◽  
Author(s):  
Edwin G. Fischer ◽  
Roy D. Strand ◽  
Frederic Shapiro
Keyword(s):  
Arteriovenous Malformation ◽  
Posterior Fossa ◽  
Giant Aneurysm ◽  
Capillary Hemangioma ◽  
Cerebral Vasculature ◽  
Content Type ◽  
Vascular Abnormalities ◽  
Congenital Hemihypertrophy ◽  
The Brain ◽  
Fine Print

✓ Two patients are described with congenital hemihypertrophy and vascular abnormalities of the brain on the side of the hypertrophy and in the posterior fossa. The abnormalities observed included giant aneurysm, capillary hemangioma, and arteriovenous malformation. Vascular anomalies in the affected limbs are common in congenital hemihypertrophy, and neurological abnormalities and hypertrophy of the brain have been reported. The presence of vascular abnormalities of the brain in this condition may provide an opportunity to further the understanding of the development of cerebrovascular malformations.

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