Ocular and Systemic Manifestations of PHACES (Posterior Fossa Malformations, Hemangiomas, Arterial Anomalies, Cardiac Defects and Coarctation of the Aorta, Eye Abnormalities, and Sternal Abnormalities or Ventral Developmental Defects) Syndrome

2005 ◽  
Vol 9 (2) ◽  
pp. 169-173 ◽  
Author(s):  
Alaina Kronenberg ◽  
Francine Blei ◽  
Emily Ceisler ◽  
Mark Steele ◽  
Louis Furlan ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Coarctation Of The Aorta ◽  
Cardiac Defects ◽  
Developmental Defects ◽  
Posterior Fossa Malformations ◽  
Systemic Manifestations ◽  
Arterial Anomalies

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.

Endocrine manifestations of PHACE syndrome

2019 ◽  
Vol 32 (8) ◽  
pp. 797-802 ◽  
Author(s):  
Chansuda Bongsebandhu-phubhakdi ◽  
Therdpong Tempark ◽  
Vichit Supornsilpchai
Keyword(s):  
Posterior Fossa ◽  
Ectopic Thyroid ◽  
Cardiac Defects ◽  
Thyroid Dysgenesis ◽  
Presenting Symptoms ◽  
Phace Syndrome ◽  
Pituitary Dysfunction ◽  
Hormonal Treatments ◽  
Arterial Anomalies

Abstract PHACE syndrome is an uncommon disorder of posterior fossa anomalies, cervicofacial infantile hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and midline/ventral defects. Endocrine abnormalities including hypopituitarism and ectopic thyroid were rarely described. In this article we review occurrence, onset, presenting symptoms, hormonal treatments and outcomes of all endocrine abnormalities in PHACE syndrome. Eleven of 20 (55%) had hypothalamic-pituitary dysfunction and 10 of 20 (50%) had thyroid dysgenesis. A thorough understanding of the endocrine manifestations is important for clinicians to early identify endocrine involvement in PHACE and develop plans for monitoring and treatment of its complications.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

2020 ◽  
Author(s):  
Siddaramappa J. Patil ◽  
Shruti Pande ◽  
Jyoti Matalia ◽  
Venkatraman Bhat ◽  
Minal Kekatpure ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Later Life ◽  
Facial Dysmorphism ◽  
Ocular Manifestations ◽  
Occipital Encephalocele ◽  
Knobloch Syndrome ◽  
Posterior Fossa Malformations ◽  
Midline Cleft

AbstractKnobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1. KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.

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