Results 71 to 80 of about 48,690 (312)

Amputation and rotationplasty in children with limb deficiencies: current concepts [PDF]

, 2016
Purpose Amputations and fitting surgery have a long history in children with limb deficiencies. With the current developments in limb reconstruction and new techniques in prosthetics, the indications for amputation and fitting surgery might have shifted,
Iris van Wijk, Ralph Sakkers
core   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Congenital foot deformation alters the topographic organization in the primate somatosensory system [PDF]

Brain Structure and Function, 2014
Limbs may fail to grow properly during fetal development, but the extent to which such growth alters the nervous system has not been extensively explored. Here we describe the organization of the somatosensory system in a 6-year-old monkey (Macaca radiata) born with a deformed left foot in comparison to the results from a normal monkey (Macaca ...
Chia-Chi, Liao, Hui-Xin, Qi, Jamie L, Reed, Daniel J, Miller, Jon H, Kaas   +4 more
openaire   +2 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

A rare case of unilateral postaxial duplicated foot in a developmentally normal child

Journal of Orthopaedic Surgery, 2017
Diplopodia, being a rare congenital disorder, is infrequently discussed in published texts. Most reported cases have accounted the involvement of duplicated preaxial digits with other associated organ system and physical deformities.
Haniza Sahdi, Chan Wai Hoong, Ahmad Hata Rasit, Fredy Arianto, Lau Kiew Siong, Nur Alyana Benjamin Abdullah   +5 more
doaj   +1 more source

Surgical Correction of Congenital Planovalgus Foot Deformity in Children

N.N. Priorov Journal of Traumatology and Orthopedics, 2011
During the period from 2002 to 2008 seventeen children with III degree of congenital planovalgus foot deformity (29 feet) were operated on at orthopaedic department of Nizhniy Novgorod Scientific Research Institute of Traumatology and Orthopaedics using new technique of surgical correction. In all cases long term results were assessed within the period
Maksim Valer'evich Vlasov, A B Bogos'yan, N A Tenilin, M V Vlasov, A B Bogos'yan, N A Tenin   +5 more
openaire   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Tibial hemimelia type II (Jones) or IV A (Paley). Long-term follow-up of successful reconstructive treatment. Case report [PDF]

Chirurgia Narządów Ruchu i Ortopedia Polska
Tibial hemimelia (TH) is a rare congenital condition characterized by partial or complete absence of the tibia, often associated with limb shortening, foot deformities, and joint instability.
Milud Shadi, Eliza Kortus
doaj   +1 more source

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Chircop, Marcelle, Ellul, Marthese, Grech, Victor E., Grixti, Charles J.   +3 more
core  

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source