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Orlandi G, Sarno L, Angelino A, Motta M, Di Girolamo R, Carbone L, Rovetto M, Mazzarelli LL, Sglavo G, D' Antonio F, Mappa I, Di Mascio D, Rizzo G, Maria Maruotti G. Klippel-Trénaunay-Weber Syndrome: Prenatal Diagnosis and Review of the Literature. JOURNAL OF CLINICAL ULTRASOUND : JCU 2025; 53:535-546. [PMID: 39467282 PMCID: PMC11907225 DOI: 10.1002/jcu.23864] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 06/12/2024] [Accepted: 09/25/2024] [Indexed: 10/30/2024]
Abstract
Klippel-Trénaunay-Weber syndrome (KTW) is a rare congenital disease, representing a challenge in prenatal diagnosis due to overlapping characteristics with other syndromes and no specific genetic markers known to date. We have collected all the cases present in the literature on the prenatal diagnosis of KTW, emphasizing common ultrasound findings that can guide the clinician and genetics to the prenatal counseling. Thus, we collected all the information about the postnatal prognosis and the necessity for treatment. Our review of 44 cases highlights the typical common features: hemihypertrophy, predominantly affecting the right leg, with cystic lesions extending to the trunk or upper limbs and rare internal organ involvement. Prenatal complications, including hydrops and polyhydramnios, emphasize the need for a careful ultrasound follow-up. Despite no identified genetic mutation, genetic counseling and invasive testing are recommended. Mortality rate due to a severe complication known as Kasabach-Merritt syndrome, underlines the importance of early diagnosis and accurate management strategies. Prenatal diagnosis of KTW, guided by ultrasound findings and genetic counseling, could help with informed decision-making and optimal care planning.
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Affiliation(s)
- Giuliana Orlandi
- Gynecology and Obstetrics Unit, Department of Neuroscience, Reproductive Sciences and Dentistry, School of MedicineUniversity of Naples Federico IINaplesItaly
| | - Laura Sarno
- Gynecology and Obstetrics Unit, Department of Neuroscience, Reproductive Sciences and Dentistry, School of MedicineUniversity of Naples Federico IINaplesItaly
| | - Antonio Angelino
- Gynecology and Obstetrics Unit, Department of Public Health, School of MedicineUniversity of Naples Federico IINaplesItaly
| | - Mariarosaria Motta
- Gynecology and Obstetrics Unit, Department of Public Health, School of MedicineUniversity of Naples Federico IINaplesItaly
| | - Raffaella Di Girolamo
- Gynecology and Obstetrics Unit, Department of Public Health, School of MedicineUniversity of Naples Federico IINaplesItaly
| | - Luigi Carbone
- Gynecology and Obstetrics DepartmentUniversity of Naples Federico IINaplesItaly
| | - Marika Rovetto
- Gynecology and Obstetrics Unit, Department of Public Health, School of MedicineUniversity of Naples Federico IINaplesItaly
| | | | - Gabriella Sglavo
- Gynecology and Obstetrics DepartmentUniversity of Naples Federico IINaplesItaly
| | - Francesco D' Antonio
- Department of Obstetrics and Gynecology, Center for Fetal Care and High‐Risk PregnancyUniversity of ChietiChietiItaly
| | - Ilenia Mappa
- Department of Obstetrics and Gynecology, Center for Fetal Care and High‐Risk PregnancyUniversity of ChietiChietiItaly
| | - Daniele Di Mascio
- Maternal Infantile and Urological Science DepartmentUniversity SapienzaRomeItaly
| | - Giuseppe Rizzo
- Maternal Infantile and Urological Science DepartmentUniversity SapienzaRomeItaly
| | - Giuseppe Maria Maruotti
- Gynecology and Obstetrics Unit, Department of Public Health, School of MedicineUniversity of Naples Federico IINaplesItaly
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Fantasia I, Polsinelli V, Ambrosii S, Tabacco S, Stanislao V, Ludovisi M, Dotta A, Conforti A, D'Alfonso A, Di Fabio S, Guido M. Late third trimester diagnosis of congenital giant hemangioma complicated by the Kasabach-Merritt phenomen: a case report and literature review. J Matern Fetal Neonatal Med 2023; 36:2274803. [PMID: 37908053 DOI: 10.1080/14767058.2023.2274803] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/09/2023] [Accepted: 10/20/2023] [Indexed: 11/02/2023]
Abstract
Objective. To describe the case of a large cervical mass diagnosed in the late third trimester with development of Kasabach-Merritt phenomenon (KMP) in the immediate postnatal period, along with a literature review.Methods. Description of case-report and literature search through Medline/Pubmed, performed from inception to December 2022 for articles relating to the pre and postnatal diagnosis of KMP.Results. A 36-year-old multiparous woman was admitted to hospital for contractions at 40 weeks of gestation, in an otherwise uneventful pregnancy. Admission's ultrasound showed the presence of a voluminous mass of 14x15 cm of the posterior side of the neck, highly vascularized, and no signs of hemodynamic imbalance. Postnatally, blood tests showed the presence of severe anemia and thrombocytopenia requiring several transfusions of blood, plasma, platelets and clotting factors. Due to the association of congenital hemangioma and thrombocytopenia a diagnosis of KMP was made. After attempts of conservative treatment, surgical removal was needed to stop the hematological cascade with regression of symptoms. The review of the literature identified 14 articles including 9 cases of prenatally suspected KMP and 6 diagnosed in the immediate postnatal period and without signs of fetal hydrops. Adverse perinatal outcome, in terms of postnatal death/termination of pregnancy, was observed in 67% of cases (6/9) in the prenatally suspected group and 33% of cases in those with a postnatal diagnosis of KMP. Fetal hydrops was present in 83% of cases with adverse perinatal outcome.Conclusions. The Kasabach-Merrit syndrome is a rare condition, which can have a dangerous evolution when it develops in utero or in the immediate postnatal period carrying a risk of perinatal mortality of approximately 50%. Even if the fetus shows no signs of anemia or heart failure, the risk of developing it in the immediate postnatal period is high and should be mentioned to the couple.
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Affiliation(s)
- I Fantasia
- University Department of Obstetrics & Gynaecology, San Salvatore Hospital, L'Aquila, Italy
| | - V Polsinelli
- University Department of Obstetrics & Gynaecology, San Salvatore Hospital, L'Aquila, Italy
- Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy
| | - S Ambrosii
- University Department of Obstetrics & Gynaecology, San Salvatore Hospital, L'Aquila, Italy
- Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy
| | - S Tabacco
- University Department of Obstetrics & Gynaecology, San Salvatore Hospital, L'Aquila, Italy
| | - V Stanislao
- University Department of Obstetrics & Gynaecology, San Salvatore Hospital, L'Aquila, Italy
- Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy
| | - M Ludovisi
- University Department of Obstetrics & Gynaecology, San Salvatore Hospital, L'Aquila, Italy
- Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy
| | - A Dotta
- Neonatal Intensive Care Unit, Medical and Surgical Department of Fetus-Newborn-Infant, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy
| | - A Conforti
- Department of Neonatal Medicine and Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
| | - A D'Alfonso
- University Department of Obstetrics & Gynaecology, San Salvatore Hospital, L'Aquila, Italy
- Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy
| | - S Di Fabio
- Neonatology Unit, San Salvatore Hospital, L'Aquila, Italy
| | - M Guido
- University Department of Obstetrics & Gynaecology, San Salvatore Hospital, L'Aquila, Italy
- Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy
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Singh N, Mandelia A, Nigam N, Yadav S, Pradhan M. Fetal Klippel-Trenaunay-Weber Syndrome: Antenatal Diagnosis and Postnatal Management. J Indian Assoc Pediatr Surg 2023; 28:387-391. [PMID: 37842217 PMCID: PMC10569273 DOI: 10.4103/jiaps.jiaps_170_22] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/04/2022] [Revised: 03/01/2023] [Accepted: 03/21/2023] [Indexed: 10/17/2023] Open
Abstract
Context Klippel-Trenaunay-Weber syndrome (KTWS) is a rare disease characterized by a triad of venous malformations, vascular skin nevus and asymmetric hypertrophy of bone and soft tissue. The spectrum of disease in utero varies from asymptomatic nevus flammeus to life threatening complications like Kasabach-Merritt phenomena. Aim The aim of this study was to review our experience of antenatal diagnosis of KTWS and it's postnatal management. Settings and Design This was a retrospective observational study of all pregnant women who were antenatally diagnosed with KTWS and postnatally confirmed at a tertiary care center in north India between 2012 and 2021. Subjects and Methods The electronic medical records were reviewed and data were collected regarding demographic information, obstetric history, clinical presentation, sonographic findings, mode of delivery, fetal outcome, and follow-up. Results During the study period, four fetuses were diagnosed with KTWS on sonography. Three women were multigravida whereas one was a primigravida. Two women opted for medical termination of pregnancy and one each had liveborn child and an intra-uterine fetal death. KTWS was confirmed in all cases. The liveborn child underwent treatment for the vascular malformation and is alive at 4 years of age. Conclusions This study attempts to add onto the available literature regarding the spectrum of prenatal presentations of KTWS. It emphasizes the importance of prenatal diagnosis and follow-up of the fetus/neonate.
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Affiliation(s)
- Neeta Singh
- Department of Maternal and Reproductive Health, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
| | - Ankur Mandelia
- Department of Pediatric Surgical Superspecialities, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
| | - Neha Nigam
- Department of Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
| | - Sangeeta Yadav
- Department of Maternal and Reproductive Health, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
| | - Mandakini Pradhan
- Department of Maternal and Reproductive Health, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
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Pang HQ, Gao QQ. Prenatal ultrasonographic findings in Klippel-Trenaunay syndrome: A case report. World J Clin Cases 2021; 9:10994-10998. [PMID: 35047609 PMCID: PMC8678865 DOI: 10.12998/wjcc.v9.i35.10994] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/28/2021] [Revised: 05/29/2021] [Accepted: 07/06/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder. A detailed prenatal ultrasound examination plays an important role in the diagnosis of KTS and the subsequent counseling and follow-up of the patient.
CASE SUMMARY A 25-year-old woman attended our department for a regular examination. The whole of the right lower extremity and right buttock were observed to be markedly thicker compared to the left one at 18 wk of gestation. However, the lengths of the right femur, tibia and fibula were in the normal range. No marked edema and fluid/cystic spaces were detected in the lower limbs. There were no other organ abnormalities. The vasculature in the right limb was visibly dilated, with much higher intensive blood flow signals. No congenital embryonic veins were visible in both limbs. The right lower limb exhibited much more hypertrophy compared to the left limb two weeks later. Amniocentesis and genetic tests showed normal results with 46 XX. Despite the normal karyotype, the family opted to terminate the pregnancy. The post-mortem examination confirmed asymmetric hypertrophy of the right limb in the fetus and revealed a large area of marked dark-purple superficial capillary malformations occupying the skin of the right lower extremity. The enlargement of veins and soft tissue hypertrophy were also seen on postnatal X-ray and Magnetic Resonance Imaging. Autopsy revealed severe congestion in the right lower limb. A final diagnosis of KTS was made.
CONCLUSION KTS may be diagnosed prenatally based on the typical features observed during ultrasound examination.
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Affiliation(s)
- Hou-Qing Pang
- Department of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
- Key Laboratory of Obstetric & Gynecological and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu 610041, Sichuan Province, China
| | - Qian-Qian Gao
- Department of Ultrasound, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
- Key Laboratory of Obstetric & Gynecological and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu 610041, Sichuan Province, China
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Yu D, Sun L, Chen T. Prenatal ultrasound diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma. JOURNAL OF CLINICAL ULTRASOUND : JCU 2021; 49:254-256. [PMID: 33210306 DOI: 10.1002/jcu.22896] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 05/02/2020] [Accepted: 06/28/2020] [Indexed: 06/11/2023]
Abstract
We describe a case of prenatal diagnosed Klippel-Trenaunay-Weber syndrome, which mainly manifested as hypertrophy of the left thigh, and was associated with umbilical cord hemangioma and loss of heterozygosity (LOH) for 1q21.2 q44. This case report describes the second reported case associated with umbilical cord hemangioma and the first reported case with LOH for 1q21.2 q44.
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Affiliation(s)
- Dongmei Yu
- Department of Special Examinations, Qingdao Women and Chlidren's Hospital, Qingdao, China
| | - Lingyu Sun
- Department of Special Examinations, Qingdao Women and Chlidren's Hospital, Qingdao, China
| | - Taotao Chen
- Department of Special Examinations, Qingdao Women and Chlidren's Hospital, Qingdao, China
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Shiyun PMM, Pan YMM, Jinzhou WMM, Siyu YMB, Ling WMB, Xiyue ZMB, Fan YMD. Prenatal Ultrasound Diagnosis of Klippel-trenaunay Syndrome Associated with the Thickened Thigh and Dilated Inferior Vena Cava: A Case Report and Literature Review. ADVANCED ULTRASOUND IN DIAGNOSIS AND THERAPY 2021. [DOI: 10.37015/audt.2021.210012] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/19/2023] Open
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Ivanitskaya O, Andreeva E, Odegova N. Prenatal diagnosis of Klippel-Trenaunay syndrome: Series of four cases and review of the literature. ULTRASOUND : JOURNAL OF THE BRITISH MEDICAL ULTRASOUND SOCIETY 2020; 28:91-102. [PMID: 32528545 DOI: 10.1177/1742271x19880327] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Received: 04/16/2019] [Accepted: 09/08/2019] [Indexed: 01/19/2023]
Abstract
Klippel-Trenaunay syndrome is a rare disease with a classic triad of port wine stains, varicose veins, and bony and soft tissue hypertrophy of an extremity. The quality of life in these patients is significantly affected, making the prenatal diagnosis of Klippel-Trenaunay syndrome important. We present four prenatally diagnosed cases of this anomaly with a unique case of ectrodactyly of the hand in foetus with Klippel-Trenaunay syndrome. Such a combination has not been previously reported prenatally. A review of the literature for similar cases is also presented.
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Affiliation(s)
- Olga Ivanitskaya
- Medical Genetic Department, Moscow Regional Research Institute of Obstetrics and Gynecology, Moscow, Russian Federation
| | - Elena Andreeva
- Medical Genetic Department, Moscow Regional Research Institute of Obstetrics and Gynecology, Moscow, Russian Federation
| | - Natalia Odegova
- Medical Genetic Department, Moscow Regional Research Institute of Obstetrics and Gynecology, Moscow, Russian Federation
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Al-Najjar RM, Fonseca R. An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report. BMC Pediatr 2019; 19:95. [PMID: 30954069 PMCID: PMC6451243 DOI: 10.1186/s12887-019-1480-0] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/28/2018] [Accepted: 03/31/2019] [Indexed: 01/19/2023] Open
Abstract
Background Klippel-Trénaunay syndrome (KTS) is a rare congenital condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft tissue hypertrophy. Case presentation Here we report the first case of a one-day-old male with KTS presenting with crossed-bilateral limb hypertrophy and post-axial polydactyly. Conclusion This case serves to highlight the variable presentation and multiple problems faced by patients with KTS and why multidisciplinary management is mandatory.
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Affiliation(s)
- Rawan M Al-Najjar
- Department of Pediatrics, Texas Children's Hospital, Houston, Texas, USA.
| | - Rafael Fonseca
- Division of Neonatology, Department of Pediatrics, University of Texas Medical Branch at Galveston, Galveston, Texas, USA
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Klippel-Trenaunay-Weber Syndrome with Kasabach-Merritt Coagulopathy and Hydronephrosis. Indian Pediatr 2016; 52:987-8. [PMID: 26615353 DOI: 10.1007/s13312-015-0760-5] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/19/2023]
Abstract
BACKGROUND Klippel-Trenaunay-Weber Syndrome is a rare syndrome, consisting of vascular malformation of blood and lymph vessels. CASE CHARACTERISTICS A newborn female with respiratory distress from birth, and having vascular malformation involving left thigh. OBSERVATION The neonate also had hydronephrosis and developed complication of Kasabach Merritt syndrome. MESSAGE Urogenital abnormalities can be present in Klippel-Trenaunay-Weber syndrome but hydronephrosis is rare. Mortality is high with development of Kasabach Merritt syndrome.
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El-Agwany AS. Maternal Klippel–Trenaunay Syndrome with Complete Hydatidiform Mole and Coexistent Fetus: A Case Managed by Surgical Evacuation with Review of the Literature. INDIAN JOURNAL OF GYNECOLOGIC ONCOLOGY 2016. [DOI: 10.1007/s40944-016-0051-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/19/2023]
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Araki N, Yamada T, Morikawa M, Akimoto T, Cho K, Minakami H. Fetal presentation of Klippel-Trénaunay-Weber syndrome with massive pleural effusion and ascites. CASE REPORTS IN PERINATAL MEDICINE 2014. [DOI: 10.1515/crpm-2013-0082] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
Abstract
Abstract
Background: Although fetuses with Klippel-Trénaunay-Weber syndrome (KTS) show various morphological abnormalities on imaging studies, fetal presentation with hydrops fetalis is relatively uncommon in KTS.
Case: A 28-year-old Japanese woman who had previously given birth to a healthy infant was referred to us at gestational week (GW) 22 due to huge pleural effusion and ascites. The possibility of fetal pulmonary hypoplasia prompted us to place bilateral thoracoamniotic shunts at GW 23 after extensive discussion with both parents. The bilateral shunts were effective in preventing recurrence of pleural effusion. However, ascites gradually increased and clinical signs of fetal cardiac failure necessitated cesarean section at GW 34. A male infant, weighing 4252 g at birth and 2860 g after removal of ascites, survived to the neonatal period and did not require oxygen after postnatal day 63. The infant left hospital on day 103 with a diagnosis of KTS.
Conclusion: Fetuses with KTS may present with massive pleural effusion and ascites. Thoracoamniotic shunting may be effective in such hydropic fetuses with KTS.
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Affiliation(s)
- Naoto Araki
- Center for Perinatal Medicine, Hokkaido University Hospital, Sapporo, Japan
| | - Takahiro Yamada
- Department of Obstetrics, Hokkaido University Graduate School of Medicine, Kita-ku N14 W6, Sapporo 060–8638, Japan
| | - Mamoru Morikawa
- Center for Perinatal Medicine, Hokkaido University Hospital, Sapporo, Japan
| | - Takuma Akimoto
- Center for Perinatal Medicine, Hokkaido University Hospital, Sapporo, Japan
| | - Kazutoshi Cho
- Center for Perinatal Medicine, Hokkaido University Hospital, Sapporo, Japan
| | - Hisanori Minakami
- Center for Perinatal Medicine, Hokkaido University Hospital, Sapporo, Japan
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Coombs PR, James PA, Edwards AG. Sonographic identification of lower limb venous hypoplasia in the prenatal diagnosis of Klippel-Trénaunay syndrome. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2009; 34:727-729. [PMID: 19902468 DOI: 10.1002/uog.7461] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/28/2023]
Abstract
We report the prenatal identification of lower-limb venous hypoplasia to support a provisional prenatal diagnosis of Klippel-Trénaunay syndrome (KTS). Ultrasound assessment of a fetus with marked lower-limb edema, cystic areas in the abdomen/pelvis/lower limbs and abnormal development of the feet demonstrated bilateral hypoplasia of the femoral and popliteal veins. The external iliac veins and the great saphenous veins were seen to be normal. The lower limb arterial system was present. These findings supported KTS as the most likely provisional diagnosis, and postnatal clinical evaluation confirmed that the infant is best classified in the spectrum of KTS. Venous hypoplasia was confirmed with a postnatal ultrasound examination of the lower limbs. This case suggests that careful examination of the lower-limb venous system may be helpful in making the prenatal diagnosis of KTS.
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Affiliation(s)
- P R Coombs
- Department of Medical Imaging and Radiation Sciences, Faculty of Medicine, Monash University, Ultrasound Department, Monash Medical Centre, Clayton, Australia.
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Yüksel A, Yagmur H, Kural BS. Prenatal diagnosis of isolated macrodactyly. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2009; 33:360-362. [PMID: 19248001 DOI: 10.1002/uog.6326] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/27/2023]
Abstract
Congenital enlargement of one or several digits of the hands or feet, known as macrodactyly, is a rare malformation. True macrodactyly, characterized by overgrowth of all mesenchymal elements, must be differentiated from that due to tumorous enlargement of a single element, as in hemangioma, lymphangioma or enchondroma. Furthermore, macrodactyly may be isolated, but it can also be associated with several syndromes. Here we present a case of prenatally diagnosed isolated true macrodactyly of the second toe of the left foot at 24 weeks of gestation, and discuss the key points in its differential diagnosis and management.
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Affiliation(s)
- A Yüksel
- Department of Obstetrics & Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
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Chou MM, Chen WC, Ho ESC. Into the fourth dimension. Am J Obstet Gynecol 2008; 198:241.e1-2. [PMID: 18226636 DOI: 10.1016/j.ajog.2007.12.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/20/2007] [Revised: 10/29/2007] [Accepted: 12/18/2007] [Indexed: 10/22/2022]
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Martínez-Frías ML. Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility? Am J Med Genet A 2007; 146A:26-34. [DOI: 10.1002/ajmg.a.32050] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/17/2022]
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