Results 71 to 80 of about 87,395 (353)

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Déformation de Madelung à propos d�un cas et revue de la littérature

The Pan African Medical Journal, 2016
La maladie de Madelung est une déformation du poignet due à une atrophie de la partie médiale du cartilage de croissance distal du radius. Il en résulte une subluxation antéro-médiale du carpe,limitant les amplitudes articulaires. Cette dysplasie osseuse
Kouassi Kouame Jean Eric1,and Yao Loukou Blaise1, Krah Koffi Leopold1, Sery Bada Justin Léopold Niaore1, Mébra Kouamé Innocent1, Assere Yao Aboh Ganyn Robert Arnaud1, Kodo Michel Kouassi Kouame Jean Eric, Yao Loukou Blaise, Krah Koffi Leopold, Sery Bada Justin Léopold Niaore, Mébra Kouamé Innocent, Assere Yao Aboh Ganyn Robert Arnaud, Kodo Michel   +6 more
doaj   +1 more source

Using Combined Osteosynthesis in Trauma Practice in the Treatment of Diaphyseal Forearm Injuries

Acta Biomedica Scientifica, 2021
The article presents the experience of surgical treatment of a rare pathology of the upper limb – the pseudarthrosis of the middle third of the radial shaft with a bone defect in combination with the pseudarthrosis of the middle and lower third of the ...
M. E. Puseva, Ch. Z. Butaev, A. N. Rudakov   +2 more
doaj   +1 more source

Temporary brittle bone disease:association with intracranial bleeding [PDF]

, 2013
We report 20 infants aged between 1 month and 6 months found to have subdural bleeding and also multiple unexplained fractures in a pattern similar to that described earlier as temporary brittle bone disease. Child abuse seemed unlikely as a cause of the
Ayoub, Ayoub, Bacopoulou, Bacopoulou, Barzegar, Barzegar, Caffey, Caffey, Dabezies, Dabezies, Evensen, Evensen, Fenton, Fenton, Gabaeff, Gabaeff, Galaznik, Galaznik, Garcia, Garcia, Geddes, Geddes, Gilman, Gilman, Gomez, Gomez, Graziani, Graziani, Gupta, Gupta, Hegedüs, Hegedüs, Jackson, Jackson, Jenny, Jenny, Keller, Keller, Kidd, Kidd, Kosmetatos, Kosmetatos, Lucas, Lucas, McLean, McLean, Mena, Mena, Mendelson, Mendelson, Miller, Miller, Muller, Muller, Nassogne, Nassogne, Ozdemir, Ozdemir, Parmar, Parmar, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Paterson, Pontz, Pontz, Rooks, Rooks, Rorke, Rorke, Saarinen, Saarinen, Sasaki, Sasaki, Sayre, Sayre, Shearer, Shearer, Sillence, Sillence, Sohda, Sohda, Squier, Squier, Stanley, Stanley, Targher, Targher, Terling, Terling, Uscinski, Uscinski, Visser, Visser, Wei, Wei, Weir, Weir   +105 more
core   +3 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Outcomes of osteoarticular ulna allograft for the reconstruction of proximal ulna tumour: a retrospective series of 13 patients

Bone & Joint Open
Aims: The ulna is an extremely rare location for primary bone tumours of the elbow in paediatrics. Although several reconstruction options are available, the optimal reconstruction method is still unknown due to the rarity of proximal ulna tumours.
Sam Hajialiloo Sami, Khalil Kargar Shooroki, Wael Ammar, Shimasadat Nahvizadeh, Mohammad Mohammadi, Raza Dehghani, Babak Toloue   +6 more
doaj   +1 more source

Morphology and function of the forelimb in arboreal frogs: specializations for grasping ability. [PDF]

, 2008
Frogs are characterized by a unique morphology associated with their saltatory lifestyle. Although variation in the form and function of the pelvic girdle and associated appendicular system related to specialized locomotor modes such as swimming or ...
Blaylock, Bloch, Burton, Cartmill, Duellman, Ecker, Emerson, Emerson, Fabrezi, Fabrezi, Frost, Gans, Gaupp, Gray, Hanna, Havelková, Isler, Jenkins, Jenkins, Landsmeer, Loeb, Lutz, Manzano, Manzano, Manzano, Martin, Marzke, Napier, Napier, Nauwelaerts, Sargis, Schmitt, Shubin, Sokal, Tuttle, Videler   +35 more
core   +2 more sources

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Bioprinted Excitable Tissues with Multistimulation Systems for Promoting Function and Maturation

Advanced NanoBiomed Research, EarlyView.
This review provides an overview of stimulation strategies used to enhance the functional maturation of bioprinted excitable tissues. It addresses key limitations in physiological performance of bioprinted excitable tissues, outlines major stimulation modalities—including electrical, mechanical, optical, magnetic, ultrasound, and hybrid—and examines ...
Uijung Yong, Jinseon Park, Jinah Jang
wiley   +1 more source

Alongamento simultâneo do rádio e ulna em cães pelo método de Ilizarov

Arquivo Brasileiro de Medicina Veterinária e Zootecnia, 2002
Com o objetivo de avaliar a funcionalidade de uma montagem do aparelho de Ilizarov para o alongamento simultâneo do rádio e da ulna, foram utilizados 15 cães, sem raça definida, adultos, com peso entre 17 e 27kg.
S.C. Rahal, R.S. Volpi, P. Iamaguti, L.C. Vulcano   +3 more
doaj   +1 more source