A case of McKusick-Kaufman syndrome. The condition is named for Dr. Robert L. Kaufmanand Victor McKusick. Australasian Radiology, Vol. Slavin TP, Mccandless SE, Lazebnik N. McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder. McKusick‐Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. 2002;22 (11): 1048-50. Check for errors and try again. 2011;54 (5): 219-23. Unable to process the form. The McKusick–Kaufman syndrome is an allelic form of BBS. We report such a case diagnosed just before birth with a favourable outcome. Kaufman-McKusick syndrome. Gaucherand P, Vavasseur-monot C, Ollagnon E et-al. It is sometimes known by the abbreviation MKS. [1,2,3] Hydrocolpos or hydrometrocolpos caused by obstruction of the vagina accounts for 15% of abdominal masses in newborn girls. Disease Support Groups (0) General Support Groups (19) Support Services. McKusick–Kaufman syndrome (MKKS) is a rare autosomal recessive syndrome. A case of McKusick-Kaufman syndrome. August 2013; The Indian journal of radiology and imaging 23(2):183-185 Journal of Radiology Case Reports uterus didelphys, concealed hemorrhage within non- Pallister-Hall syndrome, Ellis-Van Creveld syndrome orofaciodigital syndrome (type IV). Neonatal hydrometrocolpos associated with McKusick Kaufman syndrome. Support Type. Term pregnancy in a patient with McKusick-Kaufman syndrome. McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterised by 1. Kaufman McKusick syndrome symptoms, causes, diagnosis, and treatment information for Kaufman McKusick syndrome (McKusick-Kaufman syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis. 3. J Clin Ultrasound. McKusick-Kaufman syndrome (MKKS) (OMIM 236700) is a rare autosomal recessive inherited syndrome that was first described by McKusick in 1964 in the Old Order Amish population, where it affects an estimated 1/10000 people [1,3,4]. This association led initially to the diagnosis of McKusick-Kaufman syndrome (MKKS). Diagn. We present an … McKusick-Kaufman syndrome is a rare autosomal recessive disease diagnosed by polydactyly, hydrometrocolpos, and congenital heart disease. skos@gmx.de We present a preterm-born girl with polydactyly of both hands and massive hydrometrocolpos, the latter due to vaginal atresia. Background: Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina. Son SH, Kim YJ, Kim ES et-al. Get Update Find Support. The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome: A rare case report. Central Journal of Radiology & Radiation therapy. McKusick Kaufman syndrome ICD-11 More detail. ADVERTISEMENT: Radiopaedia is free thanks to our supporters and advertisers. Adolescent and Pediatric Gynecology, Vol. Pediatric Radiology: McKusick-Kaufman Syndrome: Atretic Upper Vaginal Pouch; an Unusual Urogenital MR Finding Mostafavi et al. McKusick–Kaufman syndrome is inherited in an autosomal recessive manner McKusick–Kaufman syndromeis a genetic condition associated with MKKS. Expand. A case of McKusick-Kaufman syndrome. However, additional features, including characteristic radiographic findings of the hands and a large hypothalamic tumour, presumably a hamartoma, favoured the diagnosis of Pallister-Hall syndrome (PHS), which was then genetically confirmed by detection of a GLI3 mutation (Q717X). McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. Abstract Hydrometrocolpos (HMC) and post‐axial polydactyly (PAP) are common to both McKusick‐Kaufman syndrome (MKS) and Bardet‐Biedl syndrome (BBS). Prenat. This disease affects the development of the hands and feet, heart and reproductive system. It was initially thought to be a classic autosomal-recessive disorder, but the genetics of BBS turn out to be much more complex, with at least 15 different genes now identified as being associated with this syndrome (350,351). Korean J Pediatr. 1. Gaucherand P, Vavasseur-monot C, Ollagnon E et-al. 56, No. Serait une variante du syndrome de Bardet-Biedl. Check for errors and try again. McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up. {"url":"/signup-modal-props.json?lang=gb\u0026email="}. McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. The Indian Journal of Pediatrics, Vol. J Radiol Radiat Ther 2(1): 1022. PMID: 21991762 Abstract We are reporting a rare case of McKusick- Kaufman Syndrome in a ten-month old female infant from Addis Ababa with difficulty of urination often days duration. McKusick-Kaufman syndrome is a rare autosomal recessive disease diagnosed by polydactyly, hydrometrocolpos, and congenital heart disease. McKusick-Kaufman, syndrome de [MIM 236 700] Transmission autosomique récessive d’une mutation du gène BBS6 ou MKKS en 20p12. 2002;22 (11): 1048-50. J Clin Ultrasound. APA Citation. 3. 38 (3): 151-5. Preferred Label: McKusick Kaufman syndrome; Details. Known as: McKusick Kaufman syndrome, Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation, Hydrometrocolpos syndrome Expand National Institutes of Health Create Alert. ADVERTISEMENT: Radiopaedia is free thanks to our supporters and advertisers. Son SH, Kim YJ, Kim ES et-al. McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterised by, ADVERTISEMENT: Supporters see fewer/no ads, Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) [SNOMED CT concept] Kaufman-McKusick syndrome [MedDRA Preferred Term] McKusick Kaufman syndrome [Disease (Nov.)] McKusick Kaufman syndrome … Assessment and imaging of the pediatric and adolescent gynecologic patient. Related topics 21 relations. (2013) Mckusick Kaufman Syndrome Accompanied by Congenital Laryngomalacia, Intestinal Malrotation and Hypothalamic Hamartom. McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterized by hydrometrocolpos - vaginal atresia … Clinical exam revealed supra-pubic mass with tenderness and had left hand postaxial polydactily. A genetic disorder in which there is build up of fluids (called hydrometrocolpos) in the vagina and the uterus as a result of a membrane across the vagina which holds back the cervical fluid secreted in response to the mother s hormones during… 1, No. Unable to process the form. {"url":"/signup-modal-props.json?lang=us\u0026email="}. Le syndrome de McKusick Kaufman est une maladie génétique rare associant un hydrohématocolpos chez les filles ou des malformations des organes génitaux externes chez les garçons, une polydactylie postaxiale et une cardiopathie congénitale. Visit the Orphanet disease page for more resources. Prenat. Atresia of vagina Autosomal recessive inheritance Congenital heart disease Cryptorchidism. Slavin TP, Mccandless SE, Lazebnik N. McKusick-Kaufman syndrome: the difficulty of establishing a prenatal diagnosis of an uncommon disorder. Neonatal hydrocolpos/hydrometrocolpos, polydactyly, and congenital heart diseases are the cardinal features of MKKS. McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up. 1. Department of Radiology, Iran University of Medical Sciences, Tehran, Iran 2. More detailed information about the symptoms, causes, and treatments of McKusick-Kaufman syndrome is available below.. We present an unusual laparotomy confirmed urogenital MRI finding (atretic vaginal pouch) in a 3-month-old girl with McKusick-Kaufman syndrome. 38 (3): 151-5. McKusick-Kaufman Syndrome: Atretic Upper Vaginal Pouch; an Unusual Urogenital MR Finding. Cite this article: Koplay M, Çiftçi İ, Annagür A, Uysal E, Sivri M, et al. McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. This association led initially to the diagnosis of McKusick-Kaufman syndrome (MKKS). 2011;54 (5): 219-23. McKusick-Kaufman syndrome: Introduction. Mckusick Kaufman Syndrome Accompanied by Congenital Laryngomalacia, Intestinal Malrotation and Hypothalamic Hamartom Mustafa Koplay 1 *, İlhan Çiftçi 2 , Ali Annagür 3 , Emine Uysal 1 , Mesut Sivri 1 , Cengiz Erol 1 and Ayhan Taştekin 3 Origin ID: 1068723140; UMLS CUI: C0948368; Currated CISMeF NLP mapping. disease. Diagn. 3. McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterized by, ADVERTISEMENT: Supporters see fewer/no ads, Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. McKusick–Kaufman syndrome (MKKS) is a recessively inherited human genetic disease predominantly characterized by developmental anomalies, including vaginal atresia with hydrometrocolpos, polydactyly, and congenital heart defects. 1 Department of Radiology, School of Medicine, College of Health Sciences, Addis Ababa University. McKusick Kaufman syndrome. Son SH, Kim YJ, Kim ES et-al. 2. McKusick-Kaufman Syndrome: Atretic Upper Vaginal Pouch; an Unusual Urogenital MR Finding Case Report Seyed-Hassan Mostafavi 1, Nakysa Hooman 2 *, Farideh Hallaji 1 Radiology Case. 2009 May; 3(5):1-6 :: DOI: 10.3941/jrcr.v3i5.126 Cite this paper. 1. Author information: (1)Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. 3. Last updated: 10/1/2016 McKusick-Kaufman syndrome: A rare genetic disorder characterized by hydrometrocolpos (fluid buildup in vagina and uterus), extra fingers and congenital heart defects. Related topics. Symptoms of McKusick-Kaufman syndrome 2. Seyed-Hassan Mostafavi, Nakysa Hooman, Farideh Hallaji Journal of Radiology Case Reports 2009, 3 (5): 1-5 [Anesthesia in Mckusick-Kaufman syndrome patient: case report.]. 34, No. Cohen, E., & Javitt, M. (1998). Korean J Pediatr. 1. Corresponding author. : Koplay M, Çiftçi İ, Annagür a, Uysal E Sivri...? lang=us\u0026email= '' } case report Petersgraben 4, Basel, Petersgraben 4, Basel, Switzerland of,!, Vavasseur-monot C, Ollagnon E et-al establishing a prenatal diagnosis, genetics and follow up hands. 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