This PHACE SYNDROME PHENOTYPES (FINAL AND FINAL NUMBERS) readme.txt file was generated on 2024-03-04 by Veronica Arciprete



GENERAL INFORMATION

1. Title of Dataset: PHACE SYNDROME PHENOTYPES FINAL; PHACE SYNDROME PHENOTYPES FINAL NUMBERS

2. Author Information
	A. Principal Investigator Contact Information
		Name: Rebecca Burdine
		Institution: Princeton University
		Address: 428 Moffett Lab Washington Road, Princeton, NJ 08544
		Email: rburdine@princeton.edu

	B. Undergraduate Researcher Contact Information
		Name: Veronica Arciprete
		Institution: Princeton University
		Email: vra@princeton.edu


3. Date of data collection: 2023-09-01 to 2024-03-01

4. Geographic location of data collection: Princeton, NJ, USA

5. Information about funding sources that supported the collection of the data: N/A


SHARING/ACCESS INFORMATION

1. Licenses/restrictions placed on the data: N/A

2. Links to publications that cite or use the data: see 5. A. sources

3. Links to other publicly accessible locations of the data: N/A

4. Links/relationships to ancillary data sets: N/A

5. Was data derived from another source? yes
	A. sources: 
AbouZeid, A. A., Mohammad, S. A., Aly, H. G., & Ragab, I. A. (2021). Posterior Mediastinal and Cutaneous Back Hemangiomas in Infants: A New Association. European Journal of Pediatric Surgery Reports, 09(01), e37–e40. https://doi.org/10.1055/s-0040-1721408
Al Kindi, H., Mohsen, A., Zacharias, S., & Maddali, M. M. (2023). Surgical repair of interrupted right-sided cervical aortic arch with hypoplasia of the descending thoracic aorta in a child with PHACE syndrome. European Journal of Cardio-Thoracic Surgery, 63(5), ezad171. https://doi.org/10.1093/ejcts/ezad171
Al-Khaldi, A., Alhabshan, F., Tamimi, O., & Jha, N. (2008). Repair of aortic arch atresia with diffuse hypoplasia of the descending thoracic aorta. European Journal of Cardio-Thoracic Surgery, 33(4), 751–753. https://doi.org/10.1016/j.ejcts.2007.12.035
Al-Musalhi, B., & Al-Balushi, Z. (2020). PHACES Syndrome with Intestinal Hemangioma Causing Recurrent Intussusceptions: A Case Report and Literature Review of Associated Intestinal Hemangioma. Oman Medical Journal, 35(6), 204–204. https://doi.org/10.5001/omj.2020.99
Alsuwaidan, S. (2012). PHACES syndrome in association with airway hemangioma: First report from Saudi Arabia and literature review. Annals of Thoracic Medicine, 7(1), 44. https://doi.org/10.4103/1817-1737.91555
Altin, H., Alp, H., Şap, F., Karataş, Z., Baysal, T., & Karaaslan, S. (2012). PHACE Syndrome with Growth Hormone Deficiency and Absence of Bilateral Internal Carotid Arteries: A Case Report: PHACE Syndrome with Absence of Internal Carotid Arteries. Pediatric Dermatology, 29(3), 316–319. https://doi.org/10.1111/j.1525-1470.2011.01540.x
Alves Júnior, S. F., Costa, L. M., Ventura, N., & Corrêa, D. G. (2021). PHACE syndrome: A remarkable phakomatosis. Pediatrics & Neonatology, 62(6), 666–667. https://doi.org/10.1016/j.pedneo.2021.06.001
Arafat, A. A., Sallam, A. A., Abdelwahab, A. A., & Taha, A.-H. M. (2017). Primary repair of complete sternal cleft associated with absent anterior pericardium. Journal of Cardiac Surgery, 32(5), 316–317. https://doi.org/10.1111/jocs.13132
Arora, S. S., Plato, B. M., Sattenberg, R. J., Downs, R. K., Remmel, K. S., & Heidenreich, J. O. (2011). Adult Presentation of PHACES Syndrome. Interventional Neuroradiology, 17(2), 137–146. https://doi.org/10.1177/159101991101700201
Assari, R., Ziaee, V., Moghimi, S., Akbari, M. R., & Mirmohammadsadeghi, A. (2017). PHACE(S) syndrome: Report of a case with new ocular and systemic manifestations. Journal of Current Ophthalmology, 29(2), 136–138. https://doi.org/10.1016/j.joco.2016.10.005
Aygünes, U., Dogan, M. T., & Keceli, A. M. (2021). PHACE Syndrome in a Child with Structural Malformations of the Brain. Journal of Pediatric Genetics, 10(04), 315–318. https://doi.org/10.1055/s-0040-1714066
Baccin, C. E., Krings, T., Álvarez, H., Ozanne, A., & Lasjaunias, P. L. (2007). A report of two cases with dolichosegmental intracranial arteries as a new feature of PHACES syndrome. Child’s Nervous System, 23(5), 559–567. https://doi.org/10.1007/s00381-006-0247-8
Bajaj, A., Dyke, P., Zaleski, C., Cava, J., & McPherson, E. (2011). Mild Tessier No. 7 cleft with PHACE syndrome: The case for pulmonary vascular steal. American Journal of Medical Genetics Part A, 155(9), 2298–2301. https://doi.org/10.1002/ajmg.a.34166
Bangiyev, J. N., Gurgel, R., Vanderhooft, S. L., & Grimmer, J. F. (2017). Reversible profound sensorineural hearing loss due to propranolol sensitive hemangioma in an infant with PHACE syndrome. International Journal of Pediatric Otorhinolaryngology, 103, 55–57. https://doi.org/10.1016/j.ijporl.2017.10.006
Beidas, T., Jazzar, Y., Shadid, A., Alhammad, A., Mohajer, K. A., & Abduljabbar, A. M. (2023). Propranolol for the Treatment of Hemangioma in PHACE Syndrome: A Case Report. Cureus. https://doi.org/10.7759/cureus.44036
Bellaud, G., Puzenat, E., Billon‐Grand, N. C., Humbert, P., & Aubin, F. (2015). PHACE syndrome, a series of six patients: Clinical and morphological manifestations, propranolol efficacy, and safety. International Journal of Dermatology, 54(1), 102–107. https://doi.org/10.1111/ijd.12489
Bhattacharya, J. J., Luo, C. B., �Lvarez, H., Rodesch, G., Pongpech, S., & Lasjaunias, P. L. (2004). PHACES syndrome: A review of eight previously unreported cases with late arterial occlusions. Neuroradiology, 46(3), 227–233. https://doi.org/10.1007/s00234-002-0902-z
Bijulal, S., Sivasankaran, S., Krishnamoorthy, K. M., Titus, T., Tharakan, J. A., & Krishnamanohar, S. R. (2008). Unusual Coarctation—the PHACE Syndrome: Report of Three Cases. Congenital Heart Disease, 3(3), 205–208. https://doi.org/10.1111/j.1747-0803.2008.00193.x
Biler, E. D., & Uretmen, O. (2016). Multiple Pathological Ocular Findings in a Patient With PHACE Syndrome. Journal of Pediatric Ophthalmology & Strabismus, 53(6). https://doi.org/10.3928/01913913-20161102-03
Bongsebandhu-phubhakdi, C., Tempark, T., Jakchairoongruang, K., & Supornsilpchai, V. (2019). A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions. Journal of Pediatric Endocrinology and Metabolism, 32(11), 1283–1286. https://doi.org/10.1515/jpem-2019-0078
Boulinguez, S., Teillac‐Hamel, D., Bédane, C., Bennaceur, S., & De Prost, Y. (1998). Cervicofacial Hemangioma and a Minor Sternal Malformation: Inclusion in PHACES Syndrome? Pediatric Dermatology, 15(2), 119–121. https://doi.org/10.1111/j.1525-1470.1998.tb01295.x
Bracken, J., Robinson, I., Snow, A., Watson, R., Irvine, A. D., Rea, D., & Phelan, E. (2011). PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. Pediatric Radiology, 41(9), 1129–1138. https://doi.org/10.1007/s00247-011-2142-z
Brandon, K., Burrows, P., Hess, C., & Metry, D. (2011). Arteriovenous Malformation: A Rare Manifestation of PHACE Syndrome. Pediatric Dermatology, 28(2), 180–184. https://doi.org/10.1111/j.1525-1470.2011.01371.x
Bronzetti, G., Giardini, A., Patrizi, A., Prandstraller, D., Donti, A., Formigari, R., Bonvicini, M., & Picchio, F. M. (2004). Ipsilateral Hemangioma and Aortic Arch Anomalies in Posterior Fossa Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta, and Cardiac Defects and Eye Abnormalities (PHACE) Anomaly: Report and Review. Pediatrics, 113(2), 412–415. https://doi.org/10.1542/peds.113.2.412
Bronzetti, G., Patrizi, A., Giacomini, F., Savoia, F., Raone, B., Brighenti, M., Bonvicini, M., Neri, I., & Gargiulo, G. D. (2014). A PHACES Syndrome Unmasked by Propranolol Interruption in a Tetralogy of Fallot Patient: Case Report and Extensive Review on New Indications of Beta Blockers. Current Medicinal Chemistry, 21(27), 3153–3164. https://doi.org/10.2174/0929867321666140304094345
Browne, F., Rickard, C., Smith, R. A., & Lyon, C. (2009). PHACES Syndrome—Report of Two Cases and Their Evolution Over Time. Pediatric Dermatology, 26(6), 730–734. https://doi.org/10.1111/j.1525-1470.2009.01023.x
Burch, E. A., Garzon, M. C., Parikh, A., & Meyers, P. M. (2013). A 65‐Year‐Old Woman Diagnosed With PHACE Syndrome. Pediatric Dermatology, 30(6). https://doi.org/10.1111/pde.12043
Calderón‐Castrat, X., Castro, R., Casamayor, E., & Zavala, K. (2020). Phaces syndrome successfully treated with oral atenolol. International Journal of Dermatology, 59(4). https://doi.org/10.1111/ijd.14618
Cannady, S. B., Kahn, T. A., Traboulsi, E. I., & Koltai, P. J. (2006). PHACE syndrome: Report of a case with a glioma of the anterior skull base and ocular malformations. International Journal of Pediatric Otorhinolaryngology, 70(3), 561–564. https://doi.org/10.1016/j.ijporl.2005.07.014
Carinci, S., Tumini, S., Consilvio, N. P., Cipriano, P., Di Stefano, A., Vercellino, N., Dalmonte, P., & Chiarelli, F. (2012). A case of congenital hypothyroidism in PHACE syndrome. Journal of Pediatric Endocrinology and Metabolism, 25(5–6). https://doi.org/10.1515/jpem-2012-0002
Carles, D., Pelluard, F., Alberti, E. M., Maugey‐Laulom, B., Lin, T. Y., Saura, R., Roux, D., & Lacombe, D. (2005). Fetal presentation of PHACES syndrome. American Journal of Medical Genetics Part A, 132A(1), 110–110. https://doi.org/10.1002/ajmg.a.30367
Castellano‐Martínez, A., Rodriguez‐Gonzalez, M., Benavente‐Fernandez, I., & Zuazo‐Ojeda, A. (2017). Hemangioma, aortic coarctation and intracranial dolichoectasia: PHACE syndrome. Pediatrics International, 59(2), 230–233. https://doi.org/10.1111/ped.13177
Chad, L., Dubinski, W., Hawkins, C., Pope, E., Bernstein, S., & Chiasson, D. (2012). Postmortem Vascular Pathology in PHACES Syndrome: A Case Report. Pediatric and Developmental Pathology, 15(6), 507–510. https://doi.org/10.2350/12-05-1203-CR.1
Chan, Y.-C., Eichenfield, L. F., Malchiodi, J., & Friedlander, S. F. (2005). Small facial haemangioma and supraumbilical raphe-a forme fruste of PHACES syndrome? British Journal of Dermatology, 153(5), 1053–1057. https://doi.org/10.1111/j.1365-2133.2005.06886.x
Chen, Y.-T., Liu, Y.-L., Yeh, T.-H., Ho, J.-D., Chang, C.-J., & Hsieh, K. L.-C. (2023). Adult PHACE Syndrome Presenting With Visual Field Loss: A Case Report and Review of the Literature. Journal of Neuro-Ophthalmology, Publish Ahead of Print. https://doi.org/10.1097/WNO.0000000000001864
Chiappa, E., Greco, A., Fainardi, V., Passantino, S., Serranti, D., & Favilli, S. (2015). Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course. Echocardiography, 32(9), 1441–1443. https://doi.org/10.1111/echo.12941
Chokr, J., Taslakian, B., Maroun, G., & Choudhary, G. (2019). PHACES syndrome with ectopia cordis and hemihypertrophy. Baylor University Medical Center Proceedings, 32(2), 237–239. https://doi.org/10.1080/08998280.2018.1548263
Chou, P. S., & Guo, Y. C. (2012). Limb-shaking transient ischemic attacks in an adult PHACE syndrome: A case report and review of the literature. Neurological Sciences, 33(2), 305–307. https://doi.org/10.1007/s10072-011-0671-8
Chung, J.-I., & Weon, Y. C. (2008). Ophthalmic Rete Mirabile: The First Angiographic Documentation of Embryonic Ophthalmic Collaterals in a Patient with Moyamoya Disease: A Case Report. Interventional Neuroradiology, 14(3), 293–296. https://doi.org/10.1177/159101990801400309
Coats, D. K., Paysse, E. A., & Levy, M. L. (1999). PHACE: A neurocutaneous syndrome with important ophthalmologic implications. Ophthalmology, 106(9), 1739–1741. https://doi.org/10.1016/S0161-6420(99)90350-0
Connelly, E. A., Viera, M., Price, C., & Waner, M. (2009). Segmental Hemangioma of Infancy Complicated by Life‐Threatening Arterial Bleed. Pediatric Dermatology, 26(4), 469–472. https://doi.org/10.1111/j.1525-1470.2009.00955.x
Dakshayani, B., & Benakappa, A. (2016). Multiple Segmental Hemangiomas Over One Half of the Body—A Rare Feature of PHACES Syndrome. The Indian Journal of Pediatrics, 83(1), 83–84. https://doi.org/10.1007/s12098-015-1767-6
Davenport, R., Su, J. C., Nathalie, J., Richmond, C. M., Yang Tan, T., & Robertson, S. J. (2022). Clinical overlap of PHACE and LUMBAR syndromes. Pediatric Dermatology, 39(5), 752–756. https://doi.org/10.1111/pde.15031
Dayasiri, K., & Thadchanamoorthy, V. (2021). PHACE Syndrome Presenting With Retinal Degeneration, Cortical Dysplasia, Microphthalmia, and Atrial Septal Defect in a South Asian Boy. Cureus. https://doi.org/10.7759/cureus.12928
Delgado, N., Carroll, J. J., & Meyers, P. M. (2017). Concomitant carotid aplasia and basilar artery occlusion in a child with PHACES syndrome. BMJ Case Reports, bcr-2017-221055. https://doi.org/10.1136/bcr-2017-221055
Demartini Jr., Z., Gatto, L. A. M., Lages, R. O., Francisco, A. N., Maeda, A. K., & Koppe, G. L. (2018). Atypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma. Pediatric Neurosurgery, 53(6), 421–426. https://doi.org/10.1159/000493491
Denzer, F., Denzer, C., Lennerz, B. S., Bode, H., & Wabitsch, M. (2012). A case of phace syndrome and acquired hypopituitarism? International Journal of Pediatric Endocrinology, 2012(1), 20. https://doi.org/10.1186/1687-9856-2012-20
Drolet, B. A., Dohil, M., Golomb, M. R., Wells, R., Murowski, L., Tamburro, J., Sty, J., & Friedlander, S. F. (2006). Early Stroke and Cerebral Vasculopathy in Children With Facial Hemangiomas and PHACE Association. Pediatrics, 117(3), 959–964. https://doi.org/10.1542/peds.2005-1683
Drosou, A., Benjamin, L., Linfante, I., Mallin, K., Trowers, A., Wakhloo, A. K., Thaller, S. R., & Schachner, L. A. (2006). Infantile midline facial hemangioma with agenesis of the corpus callosum and sinus pericranii: Another face of the PHACE syndrome. Journal of the American Academy of Dermatology, 54(2), 348–352. https://doi.org/10.1016/j.jaad.2005.05.037
Durr, M. L., Meyer, A. K., Huoh, K. C., Frieden, I. J., & Rosbe, K. W. (2012). Airway hemangiomas in PHACE syndrome. The Laryngoscope, 122(10), 2323–2329. https://doi.org/10.1002/lary.23475
Durusoy, C., Mihci, E., Tacoy, S., Ozaydin, E., & Alpsoy, E. (2006). PHACES syndrome presenting as hemangiomas, sternal clefting and congenital ulcerations on the helices. The Journal of Dermatology, 33(3), 219–222. https://doi.org/10.1111/j.1346-8138.2006.00050.x
Eisenmenger, L. B., Rivera-Rivera, L. A., Johnson, K. M., & Drolet, B. A. (2020). Utilisation of advanced MRI techniques to understand neurovascular complications of PHACE syndrome: A case of arterial stenosis and dissection. BMJ Case Reports, 13(9), e235992. https://doi.org/10.1136/bcr-2020-235992
El Rassi, E., & MacArthur, C. J. (2015). Propranolol-responsive cranial nerve palsies in a patient with PHACES syndrome. International Journal of Pediatric Otorhinolaryngology, 79(10), 1778–1781. https://doi.org/10.1016/j.ijporl.2015.07.040
El-Feghaly, J. R., Montenegro, M. K. P., & Mancini, A. J. (2021). Midline Skin Anomalies: A Small Clue to a Larger Diagnosis. The Journal of Pediatrics, 232, 299–300. https://doi.org/10.1016/j.jpeds.2021.02.023
Ersoy, S., & Mancini, A. J. (2005). Hemifacial Infantile Hemangioma with Intracranial Extension: A Rare Entity. Pediatric Dermatology, 22(4), 309–313. https://doi.org/10.1111/j.1525-1470.2005.22405.x
Erturk, O., Uygunoglu, U., Celkan, T., & Yalcinkaya, C. (2016). Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome. Child’s Nervous System, 32(4), 587–588. https://doi.org/10.1007/s00381-016-3027-0
Escarza, B. S., Cruz‐Beltran, S., Lessans, G., Austin, T. M., & Lam, H. V. (2021). Are pediatric patients with PHACE association at high risk for anesthetic complications? Pediatric Anesthesia, 31(2), 239–241. https://doi.org/10.1111/pan.14043
Espuñes, S. P., Santos-Juanes, J., Villanueva, A. M., Torre, A. C., Galàn, C. R., & Sánchez Del Rı́o, J. (2004). Death from cerebrovascular infarction in a patient with PHACES syndrome. Journal of the American Academy of Dermatology, 51(1), 142–143. https://doi.org/10.1016/j.jaad.2003.07.028
Feigenbaum, D. F., Sybert, V. P., Vanderhooft, S. L., Siegel, D., Drolet, B. A., Frieden, I. J., & Mathes, E. F. D. (2015). Ventral Midline Blanching in the Setting of Segmental Infantile Hemangiomas: Clinical Observations and Pathogenetic Implications. Pediatric Dermatology, 32(2), 180–187. https://doi.org/10.1111/pde.12462
Fernandez Faith, E., & Cordisco, M. (2020). Unrelenting facial segmental hemangiomas: A case series of late growth and recurrent ulcerations. Pediatric Dermatology, 37(5), 884–889. https://doi.org/10.1111/pde.14253
Fernández-Ibieta, M., & López-Gutiérrez, J. C. (2015). Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome. Case Reports in Dermatological Medicine, 2015, 1–4. https://doi.org/10.1155/2015/487562
Fernández-Mayoralas, D. M., Recio-Rodríguez, M., Fernández-Perrone, A. L., Jiménez-de-la-Peña, M., Muñoz-Jareño, N., & Fernández-Jaén, A. (2014). In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI). Journal of Child Neurology, 29(1), 118–121. https://doi.org/10.1177/0883073812467508
Finnegan, P., Tierney, E., Rafferty, S., Neylon, O., & Sadlier, M. (2023). Congenital panhypopituitarism unmasked by PHACE screening. JAAD Case Reports, 39, 118–121. https://doi.org/10.1016/j.jdcr.2023.07.003
Fitzgerald, R. T., & Zuccoli, G. (2012). Agenesis of the internal carotid artery: Associated malformations including a high rate of aortic and cardiac malformations. Pediatric Radiology, 42(11), 1333–1338. https://doi.org/10.1007/s00247-012-2455-6
Fontana, E., Causin, F., De Corti, F., & Belloni Fortina, A. (2017). Phace syndrome: Is timolol gel a chance for treatment? Journal of the European Academy of Dermatology and Venereology, 31(7). https://doi.org/10.1111/jdv.14140
Foster, K. A., Ares, W. J., Tempel, Z. J., McCormick, A. A., Panigrahy, A., Grunwaldt, L. J., & Greene, S. (2016). PHACE syndrome is associated with intracranial cavernous malformations. Child’s Nervous System, 32(8), 1463–1469. https://doi.org/10.1007/s00381-016-3097-z
Freitas, L. F., Miranda, E. C., Amaro, A. P., Narvaez, E. D. O., & Duarte, M. L. (2023). Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome. Neuropediatrics, a-2177-0358. https://doi.org/10.1055/a-2177-0358
Frieden, I. J., Reese, V., & Cohen, D. (1996). PHACE Syndrome: The Association of Posterior Fossa Brain Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta and Cardiac Defects, and Eye Abnormalities. Archives of Dermatology, 132, 307–311. https://doi.org/DOI: 10.1001/archderm.132.3.307
Fryssira, H., Tsitsika, A., Lourida, A., & Manolaki, N. (2006). PHACE Syndrome: A New Case. Clinical Pediatrics, 45(1), 89–92. https://doi.org/10.1177/000992280604500116
Ghosh, A., Tibrewal, S. R., & Thapa, R. (2007). PHACES Syndrome with Congenital Hypothyroidism. CASE REPORTS, 44.
Giardini, A., Gholam, C., Khambadkone, S., & Kostolny, M. (2010). Need for Comprehensive Vascular Assessment Before Surgical Repair of Aortic Coarctation in PHACES Syndrome. Pediatric Cardiology, 31(2), 291–293. https://doi.org/10.1007/s00246-009-9592-1
Ginat, D. T., & Lee, S.-K. (2015). Neuroimaging Manifestations of PHACE Syndrome. Pediatric Neurology, 53(3), 274–275. https://doi.org/10.1016/j.pediatrneurol.2015.03.008
Gnarra, M., Solman, L., Harper, J., & Batul Syed, S. (2015). Propranolol and prednisolone combination for the treatment of segmental haemangioma in PHACES syndrome. British Journal of Dermatology, 173(1), 242–246. https://doi.org/10.1111/bjd.13588
Gowda, V. K., & Srinivasan, V. M. (2024). PHACE Syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Coarctation of the Aorta/ Cardiac Defects, and Eye Abnormalities) /Cutaneous Hemangioma-Vascular Complex Syndrome/Pascual-Castroviejo Type II Syndrome. Indian Journal of Pediatrics, 91(1), 86–87. https://doi.org/10.1007/s12098-023-04702-w
Grosso, S., De Cosmo, L., Bonifazi, E., Galluzzi, P., Farnetani, M. A., Loffredo, P., Anichini, C., Berardi, R., Morgese, G., & Balestri, P. (2004). Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity? American Journal of Medical Genetics Part A, 124A(2), 192–195. https://doi.org/10.1002/ajmg.a.20316
Guimarães, C. V., Candeias, I., Pinheiro, A., & Trindade, F. (2017). PHACE syndrome in a child with segmental IH of face. BMJ Case Reports, bcr-2017-221793. https://doi.org/10.1136/bcr-2017-221793
Hadisurya, J., Guey, S., Grangeon, L., Wieczorek, D., Corpechot, M., Schwitalla, J. C., & Kraemer, M. (2019). Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants. Child’s Nervous System, 35(7), 1231–1237. https://doi.org/10.1007/s00381-019-04145-9
Haggstrom, A. N. (2011). Clinical Spectrum and Risk of PHACE Syndrome in Cutaneous and Airway Hemangiomas. Archives of Otolaryngology–Head & Neck Surgery, 137(7), 680. https://doi.org/10.1001/archoto.2011.113
Haggstrom, A. N., Garzon, M. C., Baselga, E., Chamlin, S. L., Frieden, I. J., Holland, K., Maguiness, S., Mancini, A. J., McCuaig, C., Metry, D. W., Morel, K., Powell, J., Perkins, S. M., Siegel, D., & Drolet, B. A. (2010). Risk for PHACE Syndrome in Infants With Large Facial Hemangiomas. Pediatrics, 126(2), e418–e426. https://doi.org/10.1542/peds.2009-3166
Hanson, A., Sato, Y., & Ghera, P. (2019). Intrathoracic hybrid lesion: An incidental finding in a patient with PHACE syndrome. BMJ Case Reports, 12(11), e231409. https://doi.org/10.1136/bcr-2019-231409
Heinisch, S., Prather, H. B., English, J. C., & Gehris, R. P. (2013). Neonate Presenting with a Midline Supraumbilical Raphe. Journal of Pediatric and Adolescent Gynecology, 26(6), 366–368. https://doi.org/10.1016/j.jpag.2013.06.010
Herbert, J., Guzmán-Pruneda, F. A., Sumner, E. E., & McKenzie, E. D. (2015). Simultaneous Repair of Right-Sided Coarctation and Vascular Ring. The Annals of Thoracic Surgery, 100(1), 334–336. https://doi.org/10.1016/j.athoracsur.2015.02.122
Herrero Hernández, A., Escobosa Sánchez, O., & Acha García, T. (2007). Successful treatment with vincristine in PHACES syndrome. Clinical and Translational Oncology, 9(4), 262–263. https://doi.org/10.1007/s12094-007-0050-3
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DATA & FILE OVERVIEW

1. File List: PHACE SYNDROME PHENOTYPES FINAL contains qualitative information obtained from PHACE Syndrome case studies with an X denoting the presence of a phenotype. 
PHACE SYNDROME PHENOTYPES FINAL NUMBERS contains the same data but in quantitative form with the number 1 denoting the presence of a phenotype.
<list all files (or folders, as appropriate for dataset organization) contained in the dataset, with a brief description>

2. Relationship between files, if important: PHACE SYNDROME PHENOTYPES FINAL NUMBERS is the numeric version of PHACE SYNDROME PHENOTYPES FINAL.

3. Additional related data collected that was not included in the current data package: 
	N/A

4. Are there multiple versions of the dataset? 
	No


METHODOLOGICAL INFORMATION

1. Description of methods used for collection/generation of data: 
	Case studies were read and phenotypic data was logged in PHACE SYNDROME PHENOTYPES FINAL. This data was then converted to numeric data in PHACE SYNDROME PHENOTYPES FINAL NUMBERS. 

2. Methods for processing the data: 
	The submitted data is the collected data. Any case studies that did not contain complete information about phenotypic presentations were excluded and not collected. 

3. Instrument- or software-specific information needed to interpret the data: N/A

4. Standards and calibration information, if appropriate: N/A

5. Environmental/experimental conditions: N/A

6. Describe any quality-assurance procedures performed on the data: N/A

7. People involved with sample collection, processing, analysis and/or submission: Veronica Arciprete


DATA-SPECIFIC INFORMATION FOR: PHACE SYNDROME PHENOTYPES FINAL

1. Number of variables: 1 column containing author information (column A); 949 columns of phenotypes (columns B-AJN)

2. Number of cases/rows: 1 row describing the phenotypes (row 1); 416 rows with case information (rows 2-417)

3. Variable List: N/A

4. Missing data codes: N/A

5. Specialized formats or other abbreviations used: N/A

DATA-SPECIFIC INFORMATION FOR: PHACE SYNDROME PHENOTYPES FINAL NUMBERS

1. Number of variables: 1 column containing author information (column A); 949 columns of phenotypes (columns B-AJN)

2. Number of cases/rows: 1 row describing the phenotypes (row 1); 416 rows with case information (rows 2-417); 1 row with the number of data points within each column (row 419); 1 row with the total number of cases (row 420); 1 row with the calculated incidence rate (row 422)

3. Variable List: N/A

4. Missing data codes: N/A

5. Specialized formats or other abbreviations used: N/A