keyword
MENU ▼
Read by QxMD icon Read
search

macrodactyly

keyword
https://www.readbyqxmd.com/read/28654575/update-on-classification-and-diagnosis-of-vascular-malformations
#1
Catherine C McCuaig
PURPOSE OF REVIEW: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia. RECENT FINDINGS: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified...
August 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28578527/tuberous-sclerosis-and-its-rare-association-with-macrodactyly-and-fibrous-hamartomas
#2
Y S Lim, M S Mak, P C Mohan
Tuberous sclerosis complex is a genetic disease that results in abnormal cellular proliferation and hamartoma growths in multiple organ systems. However, macrodactyly and subcutaneous fibrous harmatomas are very uncommon associations with this disease. We see these rare manifestations in our case report of a 16-year-old female with tuberous sclerosis complex and discuss the imaging findings and pathogenetics of these manifestations. Through this, our report aims to expand the known clinical spectrum of features seen in tuberous sclerosis and aid in its diagnosis...
September 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28525374/the-effect-of-rapamycin-nvp-bez235-aspirin-and-metformin-on-pi3k-akt-mtor-signaling-pathway-of-pik3ca-related-overgrowth-spectrum-pros
#3
Yasuyo Suzuki, Yasushi Enokido, Kenichiro Yamada, Mie Inaba, Kumiko Kuwata, Naoki Hanada, Tsuyoshi Morishita, Seiji Mizuno, Nobuaki Wakamatsu
The phosphatidylinositol 3-kinase (PI3K)/AKT/mTOR signaling pathway is critical for cellular growth and metabolism. Recently, mosaic or segmental overgrowth, a clinical condition caused by heterozygous somatic activating mutations in PIK3CA, was established as PIK3CA-related overgrowth spectrum (PROS). In this study, we report a Japanese female diagnosed with PROS, who presented with hyperplasia of the lower extremities, macrodactyly, multiple lipomatosis, and sparse hair. Sequencing and mutant allele frequency analysis of PIK3CA from affected tissues revealed that the patient had a heterozygous mosaic mutation (c...
July 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28132597/measurements-in-plain-radiographs-of-26-fingers-with-macrodactyly
#4
J W Park, J Kim, G H Baek
No abstract text is available yet for this article.
January 1, 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28062434/thumb-and-index-finger-macrodactyly-with-first-carpometacarpal-and-scaphotrapezotrapezoidal-joints-fusion-inevitable-consequence
#5
Karthikeyan P Iyengar, Hosam E Matar, Khushroo Suraliwala
No abstract text is available yet for this article.
January 6, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28061881/moebius-sequence-a-multidisciplinary-clinical-approach
#6
Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard
BACKGROUND: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation...
January 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27679695/giant-lipomatosis-of-the-sciatic-nerve-unique-magnetic-resonance-imaging-findings
#7
Ali Firat Sarp, Yeliz Pekcevik
Lipomatosis of the nerve, also known as fibrolipomatous hamartoma, is characterized by the infiltration of the nerve by fibro-fatty tissue. The affected nerve becomes thicker, and it simulates a mass lesion. Lipomatosis usually affects the median nerve and lipomatosis of the sciatic nerve is extremely rare. Magnetic resonance imaging (MRI) is the key to diagnosis, and it is usually pathognomonic. In this report, MRI and diffusion-weighted MRI findings of a case of a giant sciatic nerve lipomatosis without macrodactyly are presented...
April 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
https://www.readbyqxmd.com/read/27646902/-lumbosacral-lipoma-with-macrodactyly-deformities-report-of-a-case
#8
Q H Liao, K H Zhu
No abstract text is available yet for this article.
September 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/27637412/-congenital-malformations-of-the-forefoot
#9
B Salazard, C Philandrianos, A Gaudeuille
Malformations and deformations of the forefoot are a frequent reason for consultation. The most frequent malformations viewed at birth are syndactylies (second web space), clinodactylies (quintus varus, halllux), polydactylies (hallux, fifth toe). The macrodactylies, hypoplasia, amniotic bands are rare. The management of these defects requires knowledge of surgery adult foot, plastic surgery and especially collaboration with physiotherapists, podiatrists and orthotists. The fast growth of the foot the first year and the development of walking at one year require to start early the treatment of deformations and to anticipate the evolution of malformations...
October 2016: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/27566682/short-stature-and-macrodactyly-in-a-13-year-old-female
#10
Rohan K Henry, Monika Chaudhari, Sasigarn A Bowden
No abstract text is available yet for this article.
October 2016: Clinical Pediatrics
https://www.readbyqxmd.com/read/27519716/long-term-results-of-single-stage-reduction-surgery-for-the-treatment-of-macrodactyly
#11
H-J Lee, P-T Kim, S-J Lee, H-J Kim, I-H Jeon, I Seo
We report the long-term results of a single-stage reduction procedure for the treatment of macrodactyly. Six patients (eight cases) were included. These patients underwent a single-stage operation that included debulking with resection of the hypertrophied digital nerve and distal interphalangeal joint fusion or corrective osteotomy. Plain radiographs and functional parameters were assessed. Aesthetic improvement was achieved in all patients. The mean ratios of the lengths and circumference differences between the affected digit and the corresponding normal digit on the other hand were 1:1 and 1:1, respectively...
August 11, 2016: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/27491327/first-digit-macrodactyly-and-carpal-tunnel-syndrome-caused-by-giant-median-nerve-with-macrodystrophia-lipomatosa
#12
Walid Moudrous, Jasper van der Ree, Fiek van Tilborg, Leo H Visser
No abstract text is available yet for this article.
October 2016: Practical Neurology
https://www.readbyqxmd.com/read/27344071/ray-resection-for-progressive-macrodactyly-of-the-hand-surgical-technique-and-illustrative-cases
#13
REVIEW
Peter M Waters, Bryce T Gillespie
Macrodactyly of the hand is a rare condition. Although the underlying mechanism is being more fully elucidated, surgical intervention is typically required to improve the size and function of the affected digits. However, when an involved digit(s) is rapidly progressive in size, ray resection amputation may be the most appropriate treatment. Clinical cases are presented to illustrate single-digit and 2-digit ray resection amputations for progressive macrodactyly.
August 2016: Journal of Hand Surgery
https://www.readbyqxmd.com/read/27169167/neural-fibrolipoma-of-the-median-nerve
#14
Jawad Fares, Nizar Natout, Youssef Fares
We report a rare case of neural fibrolipoma (lipofibromatous hamartoma) of the median nerve of the hand. An 18-year-old male complaining of progressive and chronic macrodactyly of his thumb of the left hand, with neurological complains, was admitted to the hospital. Magnetic resonance (MR) evaluation revealed fibro-fatty infiltration of the median nerve at the level of the carpal tunnel, and the terminal branches of the median nerve in the thumb and index. The pathological examination of excised tissue confirmed the diagnosis of neural fibrolipoma of the terminal branch of the median nerve in his thumb...
January 2016: Le Journal Médical Libanais. the Lebanese Medical Journal
https://www.readbyqxmd.com/read/27112935/macrodactyly-in-tuberous-sclerosis-complex-case-report-and-review-of-the-literature
#15
Mariana Soeiro E Sá, Oana Moldovan, Ana Berta Sousa
Macrodactyly in the context of tuberous sclerosis complex (TSC) is a known but rare manifestation. We report the case of a boy diagnosed with TSC at 2 years and 4 months of age, presenting with bilateral macrodactyly of the first three fingers of both hands, with underlying radiographic changes, in whom molecular analysis identified a frameshift mutation on the TSC1 gene (encoding hamartin), leading to a premature stop codon. We reviewed the literature for reported cases of TSC patients with the same manifestation...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26960649/lipofibromatous-hamartoma-of-the-digital-branches-of-the-median-nerve-presenting-as-carpal-tunnel-syndrome-a-rare-case-report-with-review-of-the-literature
#16
REVIEW
Ranjan Agrawal, Cheena Garg, Arjun Agarwal, Parbodh Kumar
Lipofibromatous hamartoma (LFH) is a rare, benign fibrofatty tumor composed of a proliferation of mature adipocytes within peripheral nerves, which form a palpable neurogenic mass. It affects the median nerve in 66-80% of cases, causing pain and sensory and motor deficits in the affected nerve distribution. Patients typically present with gradually enlarging nontender lesions in the distribution of the affected nerve. The lesion is also seen to be associated with macrodactyly. The pathophysiology of LFH is unknown...
January 2016: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/26851524/somatic-mosaicism-of-the-pik3ca-gene-identified-in-a-hungarian-girl-with-macrodactyly-and-syndactyly
#17
Kornélia Tripolszki, Rachel Knox, Victoria Parker, Robert Semple, Katalin Farkas, Adrien Sulák, Emese Horváth, Márta Széll, Nikoletta Nagy
Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosphatidylinositol 3-kinase catalytic alpha (PIK3CA, OMIM 171834) gene. Here we report a Hungarian girl with macrodactyly and syndactyly. Genetic screening at hotspots in the PIK3CA gene identified a mosaic mutation (c.1624G > A, p.Glu542Lys) in the affected tissue, but not in the peripheral blood...
April 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26569430/two-cases-of-macrodactyly-of-the-foot-relevance-in-pediatric-orthopedics
#18
Xianying Zhang, Yi Liu, Bin Xiao, Yuhuan Li
Congenital enlargement of one or several digits of the foot, known as macrodactyly, is a rare malformation. Macrodactyly impedes foot development and affects function and gait. Here, we describe a surgical technique used to correct macrodactyly in two pediatric patients. We performed amputation of the enlarged phalanx and debulking of the soft tissues to construct a normal-sized digit. This precise technique involves a simple surgical plan that preserves the metatarsus and cuneiform and does not result in a wide plantapedis...
March 2016: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/26488788/prediction-of-clinically-significant-leg-length-discrepancy-in-congenital-disorders
#19
Kenichi Mishima, Hiroshi Kitoh, Izumi Kadono, Masaki Matsushita, Hiroshi Sugiura, Sachi Hasegawa, Akiko Kitamura, Yoshihiro Nishida, Naoki Ishiguro
Leg-length discrepancy greater than 2 to 2.5 cm can potentially have an adverse effect on our walking and standing mechanisms and requires proper correction involving surgical treatment. However, for minor leg-length discrepancy in childhood, decision making for the indications for and timing of epiphysiodesis is difficult because of unpredictable final discrepancy. The purpose of this study was to analyze longitudinal changes of minor leg-length discrepancy in congenital disorders and to determine earlier predictive values for the clinically significant discrepancy...
October 2015: Orthopedics
https://www.readbyqxmd.com/read/26430647/segmental-hemihyperplasia-related-macrodactyly-with-congenital-renal-agenesis-a-hand-surgeon-s-point-of-view
#20
João Nunes da Costa, Júlio Matias
No abstract text is available yet for this article.
September 2015: Archives of Plastic Surgery
keyword
keyword
34999
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"