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M Kvarnung, F Taylan, D Nilsson, M Albåge, M Nordenskjöld, B M Anderlid, A Nordgren, E Syk Lundberg
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder, caused by mutations in FLVCR2. Hallmarks of the syndrome are glomerular vasculopathy in the central nervous system, severe hydrocephaly, hypokinesia and arthrogryphosis. The disorder is considered prenatally lethal. We report the first patients, a brother and a sister, with Fowler syndrome and survival beyond infancy. The patients present a phenotype of severe intellectual and neurologic disability with seizures, absence of functional movements, and no means of communication...
January 2016: Clinical Genetics
B D Sathyanarayana, H B Basavaraj, K C Nischal, M R Swaroop, M S Lavanya, Sarda Okram
Giant congenital nevomelanocytic nevus (GCNN) is a rare variant of congenital melanocytic nevus measuring >20 cm in size that often has a garment-like distribution. Regular follow up is recommended because of a risk of melanoma transformation of 4.6%. We report a 14-year-old boy with gradual regression of giant congenital melanocytic nevus over the left upper limb, chest, back and axilla, whom we have followed-up since birth. At birth, a hyperpigmented jet-black patch without hair was present over the left side of torso and upper limb including palms and nails...
May 2014: Indian Journal of Dermatology, Venereology and Leprology
Michael Leonard, Paul Nicholson
The authors present the case of a young man with arthrogryphosis multiplex congenita and an above knee amputation who underwent an ipsilateral total hip replacement. The unique aspects of the case and technical difficulties are highlighted. Follow-up at five years revealed an excellent clinical and radiological outcome.
October 2010: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
Zoran S Gucev, Nada Pop-Jordanova, Gordana Dumalovska, Orhideja Stomnaroska, Gorgji Zafirovski, Velibor B Tasic
INTRODUCTION: Arthrogryposis multiplex congenital (AMC) is characterized by contractions of multiple joints present at birth. The involved muscles are partially or totally replaced by fat or fibrous tissue. Talipes equinovarus and scoliosis are also frequently reported. CASE PRESENTATION: This 2 year was born after uneventful pregnancy, with normal birth weight and length. The parents are unrelated, young and healthy. No malformations or mental retardation have been reported in the family...
2009: Cases Journal
Syed Amjad Hussain, Muhammad Shoaib Khan, Mian Amjad Ali, Shahabuddin
BACKGROUND: Talipes Equino-Varus (TEV) is one of the most common congenital anomaly. It is managed by various methods, i.e., conservative & surgery. Objective of this study was to determine the efficacy of modified Turco's postero-medical release in children's having congenital TEV. METHODS: This descriptive observational study was conducted from June 2004 to June 2008 in the Orthopaedics Unit of Lady Reading Hospital (LRH) Peshawar. The inclusion criteria were children of age 6 months to 3 years of age having moderate and severe club foot...
July 2008: Journal of Ayub Medical College, Abbottabad: JAMC
K Adamicová, Z Fetisovová, Y Mellová, D Statelová, Z Hutka
Juvenile hyaline fibromatosis is a rare autosomal recessive interstitial disease characterized by nodes and tumours of skin and soft tissues as well as by gingival hyperplasia. The authors described a case of 28-year-old male based on histopathological diagnosis. The patient was admitted to the hospital thrice in his life with the diagnosis of arthrogryphosis. Last time he presented with extensive secondary impetigo in extremities and pachydermia, polymalformation syndrome, multiple subcutaneous tumours, gingival hypertrophy, contractures, osteolytic lesions and positive family history...
July 1998: Ceskoslovenská Patologie
M West, L Fjeldvik, S Rand-Hendriksen
1. A Presentation of the TRS Project: Counselling and (Re)habilitation Center. A Model Project in Organizing Services for Low Frequency Diagnostic Groups. Persons with low frequency disabilities often require services from a number of professions. The patient organizations claim that the patients themselves often have to coordinate their own treatment. The TRS project has been established as one of the initiatives under the Norwegian Government's Plan of Action for the Disabled. The project is one of three national projects designed to develop models for the coordination of services for persons with low frequency congenital disabilities...
December 1995: European Journal of Pediatric Surgery
C Wilken-Jensen
Decreased maternal serum alpha-feto protein is known to be associated with fetal chromosomal abnormalities. A case of low maternal alpha-feto protein associated with congenital malformations in a fetus with a normal karyotype is described.
December 1990: European Journal of Obstetrics, Gynecology, and Reproductive Biology
J Florence
No abstract text is available yet for this article.
August 1977: Prosthetics and Orthotics International
M Bléry, S Pannier, J L Barre
Arthrogryphosis, a disease of unknown nature, is accompanied by radiological manifestations which involve essentially the limbs and spine. A distribution involving all four limbs is the most common. The commonest radiological abnormalities are equinovarus clubfoot, clubhand in ulnar deviation, scoliosis and dislocation of the hip. The radiologist examines such children in order to assess the extent of their disease and follow such orthopaedic problems as they may develop.
October 1977: Journal de Radiologie, D'électrologie, et de Médecine Nucléaire
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