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1. Full Text Klippel-Trenaunay syndrome: diagnosis in a neonate
by Pereira, Cátia and Espí Rito Santo, Rita and Saldanha, Joana
BMJ case reports, ISSN 1757-790X, 07/2017, Volume 2017, p. bcr-2017-221011
congenital disorders | infant health | capillary | venous thromboembolism | Klippel-Trenaunay-Weber Syndrome - diagnostic imaging | Magnetic Resonance Imaging | Ultrasonography, Doppler | Humans | Infant | Male | Port-Wine Stain - etiology | Leg Length Inequality - etiology
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2. Full Text Vascular malformations. Part II: Associated syndromes
by Garzon, Maria C and Huang, Jennifer T and Enjolras, Odile and Frieden, Ilona J
Journal of the American Academy of Dermatology, ISSN 0190-9622, 04/2007, Volume 56, Issue 4, pp. 541 - 564
Cutaneous vascular malformations are rare disorders representing errors in vascular development. These lesions occur much less commonly but are often confused... 
BLEB-NEVUS SYNDROME | RECEPTOR-LIKE KINASE-1 | HEREDITARY HEMORRHAGIC TELANGIECTASIA | RUBINSTEIN-TAYBI-SYNDROME | BECKWITH-WIEDEMANN-SYNDROME | KLIPPEL-TRENAUNAY-SYNDROME | STURGE-WEBER-SYNDROME | RILEY-RUVALCABA-SYNDROME | ADAMS-OLIVER-SYNDROME | MARMORATA-TELANGIECTATICA-CONGENITA | DERMATOLOGY | Klippel-Trenaunay-Weber Syndrome - epidemiology | Prognosis | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Arteriovenous Malformations - diagnosis | Male | Sturge-Weber Syndrome - therapy | Vascular Diseases - epidemiology | Incidence | Arteriovenous Malformations - epidemiology | Female | Sturge-Weber Syndrome - diagnosis | Neurocutaneous Syndromes - epidemiology | Neurocutaneous Syndromes - diagnosis | Risk Assessment | Sturge-Weber Syndrome - epidemiology | Vascular Diseases - therapy | Arteriovenous Malformations - therapy | Vascular Diseases - diagnosis | Vascular Diseases - congenital | Neurocutaneous Syndromes - therapy | Veins - abnormalities | Klippel-Trenaunay-Weber Syndrome - therapy | Capillaries - abnormalities | Arteries - abnormalities
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3. Full Text Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA
by Luks, Valerie L., BS and Kamitaki, Nolan and Vivero, Matthew P., BA and Uller, Wibke, MD and Rab, Rashed, BA and Bovée, Judith V.M.G., MD, PhD and Rialon, Kristy L., MD and Guevara, Carlos J., MD and Alomari, Ahmad I., MD and Greene, Arin K., MD, MMSc and Fishman, Steven J., MD and Kozakewich, Harry P.W., MD and Maclellan, Reid A., MD, MMSc and Mulliken, John B., MD and Rahbar, Reza, MD and Spencer, Samantha A., MD and Trenor, Cameron C., MD and Upton, Joseph, MD and Zurakowski, David, PhD and Perkins, Jonathan A., DO and Kirsh, Andrew, PhD and Bennett, James T., MD, PhD and Dobyns, William B., MD and Kurek, Kyle C., MD, MMSc and Warman, Matthew L., MD and McCarroll, Steven A., PhD and Murillo, Rudy, MD
Journal of Pediatrics, The, ISSN 0022-3476, 2015, Volume 166, Issue 4, pp. 1048 - 1054.e5
Objectives To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha ( PIK3CA ) mutations would be found in... 
Pediatrics | OVERGROWTH | MALFORMATIONS | LIPOMATOSIS | FREQUENCY | AKT3 | PEDIATRICS | TUMORIGENESIS | ACTIVATING MUTATIONS | CLOVES SYNDROME | Klippel-Trenaunay-Weber Syndrome - genetics | Vascular Malformations - metabolism | Lymphatic Abnormalities - genetics | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Abnormalities, Multiple | Child, Preschool | Lymphatic Abnormalities - metabolism | Infant | Male | Phosphatidylinositol 3-Kinases - metabolism | DNA - genetics | Phosphatidylinositol 3-Kinases - genetics | Class I Phosphatidylinositol 3-Kinases | Polymerase Chain Reaction | Vascular Malformations - diagnosis | Female | High-Throughput Nucleotide Sequencing | Klippel-Trenaunay-Weber Syndrome - metabolism | Lymphatic Abnormalities - diagnosis | Mutation | Vascular Malformations - genetics | Child | Klippel-Trenaunay syndrome | PIK3CA | somatic mutation | lymphatic malformation
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4. Full Text Diagnosis and management of extensive vascular malformations of the lower limb: Part I. Clinical diagnosis
by Redondo, Pedro and Aguado, Leyre and Martínez-Cuesta, Antonio
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2011, Volume 65, Issue 5, pp. 893 - 906
There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified.... 
magnetic resonance | embolization | cutis marmorata telangiectatica congenita | glomuvenous malformation | sclerotherapy | Stewart-Bluefarb syndrome | laser | venous malformation | multi-detector computed tomography | localized intravascular coagulation | pulmonary hypertension vascular malformations | Klippel-Trenaunay syndrome | Parkes Weber syndrome | lymphatic malformation | Macrocephaly-capillary malformation | port-wine stain | surgery | DERMATOLOGY | ARTERIOVENOUS MALFORMATION | VENOUS MALFORMATIONS | KLIPPEL-TRENAUNAY-SYNDROME | BLEB NEVUS SYNDROME | GENUINE DIFFUSE PHLEBECTASIA | CAPILLARY MALFORMATION | ANOMALIES | RILEY-RUVALCABA-SYNDROME | PROTEUS-SYNDROME | MARMORATA-TELANGIECTATICA-CONGENITA | Hemangioma, Capillary - epidemiology | Klippel-Trenaunay-Weber Syndrome - epidemiology | Hemangioma, Capillary - congenital | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Proteus Syndrome - diagnosis | Skin Abnormalities - diagnosis | Vascular Malformations - therapy | Hemangioma, Cavernous - diagnosis | Hemangioma, Capillary - diagnosis | Port-Wine Stain - diagnosis | Adult | Hemangioma, Cavernous - epidemiology | Lymphatic Abnormalities - diagnosis | Child | Infant, Newborn | Hemangioma, Cavernous - congenital | Vascular Malformations - classification | Syndrome | Vascular Malformations - epidemiology | Port-Wine Stain - epidemiology | Algorithms | Glomus Tumor - diagnosis | Leg - blood supply | Vascular Malformations - diagnosis | Hypertrophy | Skin Abnormalities - therapy
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5. Full Text Klippel–Trenaunay syndrome belongs to the PIK3CA‐related overgrowth spectrum (PROS)
by Vahidnezhad, Hassan and Youssefian, Leila and Uitto, Jouni
Experimental Dermatology, ISSN 0906-6705, 01/2016, Volume 25, Issue 1, pp. 17 - 19
Klippel–Trenaunay syndrome (KTS), originally described as a triad of cutaneous capillary malformation, bone and soft‐tissue hypertrophy, as well as venous and... 
PIK3CA‐related overgrowth spectrum | Klippel–Trenaunay syndrome | CLOVES syndrome | fibroadipose hyperplasia | PIK3CA-related overgrowth spectrum | Fibroadipose hyperplasia | Klippel-Trenaunay syndrome | EPIDERMAL-NEVI | MARMORATA TELANGIECTATICA CONGENITA | ARTERIOVENOUS-MALFORMATION | LIPOMATOUS OVERGROWTH | DERMATOLOGY | CAPILLARY MALFORMATION MCAP | NEVI CLOVE-SYNDROME | CUTIS MARMORATA | VASCULAR MALFORMATIONS | ACTIVATING MUTATIONS | Klippel-Trenaunay-Weber Syndrome - genetics | Phosphorylation | Cell Proliferation | TOR Serine-Threonine Kinases - metabolism | Klippel-Trenaunay-Weber Syndrome - classification | Humans | Hyperplasia | Klippel-Trenaunay-Weber Syndrome - diagnosis | Lipoma - genetics | Phosphatidylinositol 3-Kinases - metabolism | Mutation, Missense | Nevus - genetics | Musculoskeletal Abnormalities - diagnosis | Proto-Oncogene Proteins c-akt - metabolism | Nevus - diagnosis | Signal Transduction | Adipose Tissue - pathology | Vascular Malformations - classification | Musculoskeletal Abnormalities - classification | Phenotype | Class I Phosphatidylinositol 3-Kinases | Nevus - classification | Musculoskeletal Abnormalities - genetics | Vascular Malformations - diagnosis | Lipoma - classification | Mutation | Vascular Malformations - genetics | Lipoma - diagnosis | Angiomatosis
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6. Full Text CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME
by Shields, CL and Di Nicola, M and Pellegrini, M and Shields, JA
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, ISSN 0275-004X, 11/2018, Volume 38, Issue 11, pp. 2220 - 2227
Purpose: To describe the relationship of choroidal melanoma with phakomatosis pigmentovascularis in patients with Klippel-Trenaunay syndrome. Methods:... 
eye | choroid | tumor | ocular melanocytosis | GNAQ | OPHTHALMOLOGY | melanoma | uvea | Klippel-Trenaunay syndrome | MUTATIONS | phakomatosis pigmentovascularis | Sturge-Weber syndrome | Melanoma - etiology | Neurocutaneous Syndromes - diagnosis | Choroid Neoplasms - diagnosis | Diagnosis, Differential | Melanoma - diagnosis | Follow-Up Studies | Tomography, Optical Coherence | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Middle Aged | Neurocutaneous Syndromes - complications | Adolescent | Fatal Outcome | Aged, 80 and over | Aged | Retrospective Studies | Choroid Neoplasms - etiology | Klippel-Trenaunay-Weber Syndrome - complications | Complications and side effects | Melanoma | Choroid | Angiomatosis | Diagnosis | Health aspects | Retinal diseases | Risk factors
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7. Full Text Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?
by Abdolrahimzadeh, Solmaz and Scavella, Vittorio and Felli, Lorenzo and Cruciani, Filippo and Contestabile, Maria Teresa and Recupero, Santi Maria
BioMed Research International, ISSN 2314-6133, 2015, Volume 2015, pp. 786519 - 11
The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible... 
MEDICINE, RESEARCH & EXPERIMENTAL | PORT-WINE STAINS | ULTRASOUND BIOMICROSCOPY | NEUROCUTANEOUS SYNDROMES | ANGLE-CLOSURE GLAUCOMA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | OCULAR FINDINGS | EXUDATIVE RETINAL-DETACHMENT | EXTERNAL-BEAM IRRADIATION | NEVUS-FLAMMEUS | NEUROFIBROMATOSIS TYPE-1 | CHOROIDAL HEMANGIOMA | Neurocutaneous Syndromes - diagnosis | Diagnosis, Differential | Neurocutaneous Syndromes - therapy | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Klippel-Trenaunay-Weber Syndrome - therapy | Sturge-Weber Syndrome - therapy | Symptom Assessment - methods | Sturge-Weber Syndrome - diagnosis | Eye Diseases - diagnosis | Eye Diseases - therapy | Physiological aspects | Eye diseases | Review
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8. Full Text Klippel-trénaunay syndrome need for careful clinical classification
by Volz, Kevin R and Kanner, Christopher D and Evans, Julie and Evans, Kevin D
Journal of Ultrasound in Medicine, ISSN 0278-4297, 09/2016, Volume 35, Issue 9, pp. 2057 - 2065
Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation characterized by a triad of clinical presentations: (1) capillary malformations manifesting... 
Sonography | Vascular ultrasound | Angio-osteohypertrophy syndrome | Venous malformations | Parkes-Weber syndrome | Klippel-Trénaunay syndrome | MANAGEMENT | vascular ultrasound | WEBER-SYNDROME | SURGICAL-TREATMENT | venous malformations | CHILDREN | ACOUSTICS | angio-osteohypertrophy syndrome | TISSUE OVERGROWTH | VASCULAR MALFORMATIONS | COMPLICATIONS | Klippel-Trenaunay syndrome | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | sonography | Diagnosis, Differential | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Middle Aged | Sturge-Weber Syndrome | Adult | Female | Male
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9. Full Text Marked acanthocytosis in the setting of Klippel‐Trenaunay syndrome: A case report
by Cruz, Hugo and Ferreira, Ana Maria and Costa, Emília and Barbot, José and Freitas, Maria Inês
International Journal of Laboratory Hematology, ISSN 1751-5521, 02/2019, Volume 41, Issue 1, pp. e10 - e12
HEMATOLOGY | Young Adult | Diagnosis, Differential | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Klippel-Trenaunay-Weber Syndrome - pathology | Male | Abetalipoproteinemia - diagnostic imaging | Klippel-Trenaunay-Weber Syndrome - complications
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10. Full Text Pain, psychiatric comorbidities, and psychosocial stressors associated with Klippel-Trenaunay syndrome
by Harvey, Jamison A and Nguyen, Henry and Anderson, Katelyn R and Schoch, Jennifer J and Bendel, Emily C and Driscoll, David J and Palmer, Brian A and Tollefson, Megha M
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2018, Volume 79, Issue 5, pp. 899 - 903
Background: Klippel-Trenaunay syndrome (KTS) is characterized by the triad of capillary malformation, venous malformation with or without lymphatic... 
limb overgrowth | psychiatric comorbidities | pain | capillary malformation | Klippel-Trenaunay syndrome | vascular malformation | MANAGEMENT | DERMATOLOGY | Severity of Illness Index | Klippel-Trenaunay-Weber Syndrome - epidemiology | Mental Disorders - epidemiology | Follow-Up Studies | Comorbidity | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Pain Management - methods | Male | Klippel-Trenaunay-Weber Syndrome - psychology | Incidence | Young Adult | Adolescent | Stress, Psychological - epidemiology | Adult | Female | Retrospective Studies | Mental Disorders - diagnosis | Child | Chronic Disease | Cohort Studies | Psychological aspects | Angiomatosis | Gastrointestinal diseases
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11. Full Text Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome
by Wang, S. Keisin, MD and Drucker, Natalie A., MD and Gupta, Alok K., MD and Marshalleck, Francis E., MD and Dalsing, Michael C., MD
Journal of Vascular Surgery: Venous and Lymphatic Disorders, ISSN 2213-333X, 2016, Volume 5, Issue 4, pp. 587 - 595
Abstract Objective A dearth of information exists in the literature regarding current practice in the management of Klippel-Trénaunay syndrome (KTS), a rare... 
Surgery | SURGERY | REVISION | ULTRASOUND | INSUFFICIENCY | CLASSIFICATION | DISORDERS | ABLATION | PERIPHERAL VASCULAR DISEASE | CONGENITAL VASCULAR MALFORMATIONS | CONSENSUS STATEMENT | VEIN | SCLEROTHERAPY | Varicose Veins - diagnosis | Magnetic Resonance Imaging | Diagnosis, Differential | Vascular Surgical Procedures - methods | Klippel-Trenaunay-Weber Syndrome - etiology | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Klippel-Trenaunay-Weber Syndrome - therapy | Tomography, X-Ray Computed | Treatment Outcome | Hypertrophy - diagnosis
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12. Full Text Phakomatosis pigmentovascularis type IIb: A case with Klippel–Trenáunay syndrome and extensive dermal melanocytosis as nevus of Ota, nevus of Ito and ectopic Mongolian spots
by Namiki, Takeshi and Takahashi, Michio and Nojima, Kohei and Ueno, Makiko and Hanafusa, Takaaki and Tokoro, Shown and Yokozeki, Hiroo
The Journal of Dermatology, ISSN 0385-2407, 03/2017, Volume 44, Issue 3, pp. e32 - e33
DERMATOLOGY | Skin Neoplasms - pathology | Neurocutaneous Syndromes - diagnosis | Diagnosis, Differential | Mongolian Spot - pathology | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Middle Aged | Nevus, Pigmented - diagnosis | Male | Neurocutaneous Syndromes - pathology | Mongolian Spot - diagnosis | Nevus of Ota - pathology | Skin Neoplasms - diagnosis | Klippel-Trenaunay-Weber Syndrome - pathology | Nevus of Ota - diagnosis
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13. Full Text Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology
by Oduber, Charlène E. U and van der Horst, Chantal M. A. M and Hennekam, Raoul C. M
Annals of plastic surgery, ISSN 0148-7043, 2008, Volume 60, Issue 2, pp. 217 - 223
Klippel-Trenaunay syndrome (KTS) is a congenital malformation syndrome involving blood and lymph vessels and disturbed growth of bone and soft tissues. The... 
Klippel-Trenaunay-Weber syndrome | Vascular diseases | Angio-osteo- hypertrophy | Diagnostic criteria | Etiology | Angiomatosis | Klippel-Trenaunay syndrome | Cardiovascular diseases | Hypothesis | CONGENITAL ANGIODYSPLASIAS | MOLECULAR CHARACTERIZATION | SURGERY | diagnostic criteria | MANAGEMENT | WEBER-SYNDROME | EXTREMITIES | cardiovascular diseases | angio-osteo-hypertrophy | etiology | ARTERIOVENOUS FISTULA | HYPERTROPHY | PROTEUS SYNDROME | vascular diseases | angiomatosis | VASCULAR MALFORMATIONS | hypothesis | PARKES-WEBER | Klippel-Trenaunay-Weber Syndrome - genetics | Magnetic Resonance Imaging | Klippel-Trenaunay-Weber Syndrome - physiopathology | Arteriovenous Malformations - genetics | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Germ-Line Mutation | Polymorphism, Genetic
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14. Full Text Cutaneous vascular anomalies in the neonatal period
by Hook, Kristen P., MD
Seminars in Perinatology, ISSN 0146-0005, 2013, Volume 37, Issue 1, pp. 40 - 48
Abstract Vascular birthmarks can be difficult to diagnose in the perinatal period due to varied growth characteristics and similar initial appearances.... 
Neonatal and Perinatal Medicine | CUTIS-MARMORATA | OVERGROWTH SYNDROME | MACROCEPHALY-CAPILLARY MALFORMATION | WEBER-SYNDROME | VENOUS MALFORMATIONS | WIEDEMANN-BECKWITH SYNDROME | KLIPPEL-TRENAUNAY-SYNDROME | PEDIATRICS | RASA1 MUTATIONS | PRIMARY PULMONARY-HYPERTENSION | MARMORATA-TELANGIECTATICA-CONGENITA | OBSTETRICS & GYNECOLOGY | Sturge-Weber Syndrome - pathology | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Proteus Syndrome - diagnosis | Beckwith-Wiedemann Syndrome - diagnosis | Male | Nevus, Blue - pathology | Gastrointestinal Neoplasms - pathology | Skin Neoplasms - diagnosis | Proteus Syndrome - pathology | Female | Sturge-Weber Syndrome - diagnosis | Infant, Newborn | Telangiectasis - pathology | Skin Neoplasms - pathology | Telangiectasis - diagnosis | Diagnosis, Differential | Nevus - diagnosis | Telangiectasis - congenital | Gastrointestinal Neoplasms - diagnosis | Nevus, Blue - diagnosis | Skin Diseases, Vascular - diagnosis | Disseminated Intravascular Coagulation - etiology | Nevus - pathology | Klippel-Trenaunay-Weber Syndrome - pathology | Hypertension, Pulmonary - etiology | Beckwith-Wiedemann Syndrome - pathology | Skin Diseases, Vascular - pathology | Infants (Newborn)
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15. Full Text A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma
by Pillai, Manju and Hasini, P and Ahuja, Ashish and Krishnadas, S
Indian Journal of Ophthalmology, ISSN 0301-4738, 07/2017, Volume 65, Issue 7, pp. 623 - 625
A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She... 
Bilateral refractory glaucoma | Klippel-Trenaunay syndrome | trabeculectomy | Sturge-Weber syndrome | OPHTHALMOLOGY | Glaucoma - etiology | Trabeculectomy | Intraocular Pressure | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Tomography, X-Ray Computed | Glaucoma - surgery | Rare Diseases | Glaucoma - diagnosis | Female | Sturge-Weber Syndrome - diagnosis | Child | Sturge-Weber Syndrome - complications | Klippel-Trenaunay-Weber Syndrome - complications | Glaucoma | Care and treatment | Research | Intraocular pressure | Hypertrophy | Wine | Eye | Limbs | Consent | Angiomatosis | Children | Mutation | Stains | Veins & arteries | Klippel–Trenaunay syndrome | Sturge–Weber syndrome | Brief Communications
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16. Full Text Growing skull hemangioma: first and unique description in a patient with Klippel–Trénaunay–Weber syndrome
by van der Loo, Lars E and Beckervordersandforth, Jan and Colon, Albert J and Schijns, Olaf E. M. G
Acta Neurochirurgica, ISSN 0001-6268, 2/2017, Volume 159, Issue 2, pp. 397 - 400
We present the first and unique case of a rapid-growing skull hemangioma in a patient with Klippel–Trénaunay–Weber syndrome. This case report provides evidence... 
Neurology | Hemangioma | Surgical Orthopedics | Medicine & Public Health | Klippel–Trénaunay–Weber syndrome | Minimally Invasive Surgery | Skull hemangioma | Neurosurgery | Interventional Radiology | Neuroradiology | Skull tumor | Surgical pathology | Hemangioma - surgery | Skull - blood supply | Skull - pathology | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Middle Aged | Klippel-Trenaunay-Weber Syndrome - surgery | Female | Hemangioma - diagnosis | Case Report - Brain Tumors
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17. Full Text Parkes Weber syndrome: a case of right lower limb hypertrophy
by Sreedharan, Sadhishaan and Moore, Alice and Ross, Richard and Linklater, Nicholas and Karanth, Siddharth
ANZ Journal of Surgery, ISSN 1445-1433, 04/2018, Volume 88, Issue 4, pp. E338 - E339
SURGERY | DIAGNOSIS | MANAGEMENT | KLIPPEL-TRENAUNAY-SYNDROME | Emergency Service, Hospital | Wounds and Injuries - pathology | Sturge-Weber Syndrome - pathology | Cellulitis - pathology | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Middle Aged | Wounds and Injuries - complications | Magnetic Resonance Imaging - methods | Lower Extremity - diagnostic imaging | Lower Extremity - pathology | Sturge-Weber Syndrome - therapy | Treatment Outcome | Arteriovenous Malformations - diagnostic imaging | Arteriovenous Malformations - pathology | Computed Tomography Angiography - methods | Female | Cellulitis - etiology | Sturge-Weber Syndrome - diagnostic imaging | Lower Extremity - blood supply | Embolization, Therapeutic - methods | Sturge-Weber Syndrome - complications | Hypertrophy
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18. Full Text Life-threatening gastrointestinal bleeding in Klippel–Trenaunay syndrome
by Thosani, N and Ghouri, Y and Shah, S and Reddy, S and Arora, G and Scott, L. D
Endoscopy, ISSN 0013-726X, 07/2013, Volume 45, Issue S 02, pp. E206 - E206
Cases and Techniques Library (CTL) | SURGERY | GASTROENTEROLOGY & HEPATOLOGY | Rectal Diseases - complications | Diagnosis, Differential | Follow-Up Studies | Gastrointestinal Hemorrhage - etiology | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Adult | Male | Gastrointestinal Hemorrhage - diagnosis | Colonoscopy - methods | Klippel-Trenaunay-Weber Syndrome - complications | Rectal Diseases - diagnosis
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19. Full Text Somatic PIK3CA mutations in seven patients with PIK3CA‐related overgrowth spectrum
by Yeung, Kit San and Ip, Janice Jing Kun and Chow, Chin Pang and Kuong, Evelyn Yue Ling and Tam, Paul Kwong‐Hang and Chan, Godfrey Chi‐Fung and Chung, Brian Hon‐Yin
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 978 - 984
Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the “PIK3CA‐Related Overgrowth Spectrum.” Here, we present seven... 
PIK3CA‐related overgrowth spectrum | PIK3CA | somatic mosaicism | PIK3CA-related overgrowth spectrum | DIAGNOSIS | overgrowth spectrum | GENETICS & HEREDITY | PIK3CA-related | CLOVES SYNDROME | ACTIVATING MUTATIONS | Klippel-Trenaunay-Weber Syndrome - genetics | Class I Phosphatidylinositol 3-Kinases - genetics | Genetic Testing | Scoliosis - genetics | Humans | Klippel-Trenaunay-Weber Syndrome - diagnosis | Child, Preschool | Male | Scoliosis - pathology | Polymerase Chain Reaction - methods | Nevus - genetics | Female | Child | Gene Expression | Nevus - diagnosis | Genetic Association Studies | Vascular Malformations - pathology | Phenotype | Nevus - pathology | Adolescent | Klippel-Trenaunay-Weber Syndrome - pathology | Vascular Malformations - diagnosis | Mutation | Vascular Malformations - genetics | Scoliosis - diagnosis | Genetic aspects | Lymphatic diseases
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