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Congenital deformity of the hand

Sara Nader Marta, Roberto Yoshio Kawakami, Claudia Almeida Prado Piccino Sgavioli, Ana Eliza Correa, Guaniara D'Árk de Oliveira El Kadre, Ricardo Sandri Carvalho
Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil...
2016: Journal of Contemporary Dental Practice
Salem Samra, Debra Bourne, Joel Beckett, Michael Matthew, J Grant Thomson
BACKGROUND: Polydactyly is the most common congenital hand deformity. There is currently no consensus among pediatricians or hand surgeons regarding optimal management of ulnar (post-axial) type B polydactyly leading to uncertainty in initial treatment decisions for infants with this type of deformity. METHODS: Parents of newborns with type B ulnar polydactyly were enrolled in a prospective, nonrandomized trial from 2010 to 2012. At enrollment they were offered: 1) no treatment, 2) suture ligature, 3) immediate excision under local anesthesia, and 4) delayed excision at four months of age under general anesthesia...
October 2016: J Hand Surg Asian Pac Vol
Goo Hyun Baek, Jihyeung Kim
BACKGROUND: Oligodactyly of the hand is one of the rarest congenital anomalies of upper extremities and defined as the presence of fewer than five fingers on a hand. Although it usually occurs in association with hypoplasia or absence of ulna, it can occur without abnormality of the forearm bones. The purpose of this study is to present clinical features and radiographic characteristics of hand oligodactyly with thumb. METHODS: Five patients of oligodactyly with thumb who showed normal forearm bones, were evaluated...
October 2016: J Hand Surg Asian Pac Vol
F Duteille, C Beneteau, M-V Camut, P Perrot
Congenital deformities of the hand and upper limb include a significant number of clinical situations. Their expression is, as in all congenital diseases, variable. Therefore, we can almost consider that each clinical situation is a bit unique. The difficulty, as any congenital disease, is the fact that the clinical cases are extremely diverse and difficult to classify. So what to do and surgical strategies are often matter of "School". This is even more true that the evaluation of results is very difficult due to low series (poor statistical value) and functional assessment to be partly due to the growth of the child...
October 2016: Annales de Chirurgie Plastique et Esthétique
Ricardo Horta, Ricardo Nascimento, Alvaro Silva, Rui Pinto, Pedro Negrão, Ricardo São-Simão, Jorge Carvalho, Marta Santos Silva, Jose Amarante
Radial club hand may be congenital or acquired; radial deviation of the hand is usually found, associated with palmar flexion-pronation and treatment of severe forms of radial club hand is often difficult. Here we present a case of reconstruction of a severe postraumatic radial club hand with a free fibular osteoseptocutaneous flap and Sauve-Kapandji procedure in a 28-year-old man. The patient had a radial deviation of the wrist and right upper limb shortening as a result of an infected pseudarthrosis of the radius...
October 2016: Microsurgery
Jingjing Li, Garthiga Manickam, Seemun Ray, Chun-do Oh, Hideyo Yasuda, Pierre Moffatt, Monzur Murshed
Sphingomyelin phosphodiesterase 3 (SMPD3), a lipid-metabolizing enzyme present in bone and cartilage, has been identified to be a key regulator of skeletal development. A homozygous loss-of-function mutation called fragilitas ossium (fro) in the Smpd3 gene causes poor bone and cartilage mineralization resulting in severe congenital skeletal deformities. Here we show that Smpd3 expression in ATDC5 chondrogenic cells is downregulated by parathyroid hormone-related peptide through transcription factor SOX9. Furthermore, we show that transgenic expression of Smpd3 in the chondrocytes of fro/fro mice corrects the cartilage but not the bone abnormalities...
September 1, 2016: Molecular and Cellular Biology
G M Weisz, W R Albury, M Matucci-Cerinic, D Lazzeri
This article analyses the nature of the multiple finger anomalies found in portraits by the French Renaissance artistic dynasty, the Clouets. The multiplicity of finger anomalies could be either innocent congenital variants, or pathological and traumatic deformities. In view of the presence of such `beautifying variations' in the works of other Renaissance artists, the authors decided that these features were not the result of an epidemic of deformities, but instead represented a stylistic approach in paintings of this period at the French Court...
September 2016: QJM: Monthly Journal of the Association of Physicians
Mikhail Y Danilkin
Distraction osteogenesis has become the most used method for bone lengthening and deformity correction including the bones of the hand and foot. The principle techniques used for hand bone lengthening in posttraumatic and congenital conditions using available external fixators are based on this method. We present the technical specifications and surgical techniques with the use of a mini-fixator that was specially designed for short tubular bones. The surgical techniques of lengthening and web space skin stock creation for future web-pasty are supplied with the diagrams of their application to phalanges and illustrative clinical cases...
June 2016: Techniques in Hand & Upper Extremity Surgery
Hamza M Alrabai, Sebastian Farr, Werner Girsch
Triphalangeal thumb (TPT) is a congenital condition characterized by the presence of an additional phalanx. Variable degrees of thumb deformity, malalignment, and excessive length are common features. Impairment of hand function has been reported with TPT probably secondary to anomalistic long thumb incompatible with fine hand skills. Abnormal thumb appearance moreover represents a major psychological concern from patient's perspective. Both removal of the extra phalanx and phalangeal reduction osteotomy with resection of the unhealthy extra interphalangeal joint are established methods for correction of the associated excessive thumb length...
June 2016: Techniques in Hand & Upper Extremity Surgery
W Hülsemann, M Mann, F Winkler
Trigger thumb is one of the most common hand pathologies in toddlers. Its differential diagnoses are thumb-in-palm deformity, hyperflexible thumb, thumb hypoplasia, and congenital stiffness of the distal interphalangeal joint of the thumb. This article describes typical clinical signs of these different diseases in order to enable surgeons to make the correct diagnosis leading to the right treatment.
February 2016: Handchirurgie, Mikrochirurgie, Plastische Chirurgie
Muhammad Asad Qureshi, Ibrahim Farooq Pasha, Ahmed Bilal Khalique, Muhammad Talha, Waseem Afzal, Naveed Ahmad, Junaid Ismail, Sohail Amir, Max Aebi
OBJECTIVE: To find out the long term outcome of deformity correction by hemivertebra resection in congenital thoracolumbar spinal deformities by a single posterior approach. METHODS: This is a retrospective study carried out at the Department of Spine Surgery, Combined Military Hospital, Rawalpindi, Pakistan from April 2006 to April 2013. All operated patients having single level hemivertebrae of thoracolumbar spine with at least two years follow up were included...
November 2015: JPMA. the Journal of the Pakistan Medical Association
Donald S Bae, Maria F Canizares, Patricia E Miller, Summer Roberts, Carley Vuillermin, Lindley B Wall, Peter M Waters, Charles A Goldfarb
BACKGROUND: The purpose of this investigation was to determine the reliability of the Oberg-Manske-Tonkin (OMT) classification system applied to patients enrolled in a prospective, multicenter cohort study of congenital upper limb differences. Our hypothesis was that the OMT classification would exhibit high intraobserver and interobserver reliability and thus would be an appropriate tool for the new Congenital Upper Limb Differences registry. METHODS: Four pediatric hand surgeons independently reviewed the medical records, clinical photographs, and radiographs of 60 randomly selected patients previously enrolled in the Congenital Upper Limb Differences registry...
February 2, 2016: Journal of Pediatric Orthopedics
Morad Askari, Kevin N Christensen, Shaun Heath, Steven L Moran, Nirusha Lachman
PURPOSE: Mirror hand or ulnar dimelia is a rare and poorly studied congenital anomaly of the upper extremity. Understanding of its anatomy is limited by the rarity of the deformity and the variability in presentation. We present the case of an 80-year-old female donor with an incidental finding of mirror hand. METHODS: Medical history indicated no record of any surgical procedures or interventions to the right upper extremity suggesting that the donor had lived an independent life without the need for prosthetic aids...
September 2016: Surgical and Radiologic Anatomy: SRA
Takehiko Takagi, Atsuhito Seki, Shinichiro Takayama, Joji Mochida
BACKGROUND: In patients with congenital anomalies of the thumb, the metacarpophalangeal joint often undergoes radial deviation to compensate for a narrow first web space. In this study, we evaluated the relationship between the thumb and index finger in patients with arthrogryposis multiplex congenita (AMC), by measuring the thumb-index angle on radiographs taken while the patient held a styrene foam cone. METHODS: Investigation was carried out on nine patients (13 cases: four bilateral and five unilateral) with AMC...
March 2016: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
Pallavi A Kumbla, James C Yuen, Mark A Tait
Congenital melanocytic nevus of the hand in the pediatric population is an uncommon diagnosis. These lesions have malignant potential and can cause psychosocial effects from cosmetic deformity. Early surgical intervention is recommended in these cases. The literature suggests that full-thickness skin grafting is to be performed in the hand to maintain functionality and avoid contracture and scarring. This creates a large donor-site defect and increased risk of graft loss due to slow revascularization from graft thickness...
September 2015: Plastic and Reconstructive Surgery. Global Open
Qianqian Guo, Jia Shen, Yang Liu, Tian Pu, Kun Sun, Sun Chen
BACKGROUND/AIMS: Congenital heart defects (CHD) can occur with upper limbs deformities. Holt-Oram syndrome is the main type of heart-hand syndromes, characterized by upper limb radial ray malformations, CHD and/or conduction abnormalities. Mutations of the TBX5 gene, most of which are found within the T-box domain, are one cause of the disease. We aimed to find the cause of the disease in a family with two children exhibiting symptoms of Holt-Oram syndrome while the parents tend to be normal...
2015: Cellular Physiology and Biochemistry
Michael A Tonkin, Kerby C Oberg
The Oberg, Manske and Tonkin (OMT) Classification of congenital anomalies of the hand and upper limb uses dysmorphological terminology, placing conditions in one of three groups: Malformations, Deformations and Dysplasias. The main group, Malformations, is further subdivided according to whether the whole of the limb is affected or the hand plate alone, and whether the primary insult involves one of the three axes of limb development and patterning or is non-axial. The common surgical diagnoses, such as thumb duplication and thumb hypoplasia, are then placed within this framework...
October 2015: Hand Surgery
Muhammad Adil Soofi
Situs ambiguous(SA) is an abnormality in which the thoracic and abdominal organs are not clearly lateralized. Situs ambiguous with polysplenia is usually associated with complex cardiovascular abnormalities and rarely found among adults due to high mortality at younger age. We are reporting a rare cluster of Situs ambiguous with polysplenia (left isomerism) in an adult with congenital hand deformity and cardiovascular pathology, who presented with ascites and decompensated congestive cardiac failure due to dilated cardiomyopathy...
September 2015: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
L B Wall, D S Bae, S N Oishi, R P Calfee, C A Goldfarb
UNLABELLED: Synpolydactyly is an uncommon congenital anomaly characterized by polydactyly with syndactyly in the central hand. The purpose of this investigation was to develop and assess the reliability of a radiographic classification system for synpolydactyly. We identified 56 hands with central synpolydactyly and developed a radiographic classification system that categorizes by the location within the hand, the bony level of polydactyly, and the presence of a delta phalanx. Four paediatric hand surgeons independently reviewed each radiograph to establish reliability...
March 2016: Journal of Hand Surgery, European Volume
Nataly Klimon, Alexander Koryukov, Nina Loseva, Elena Starobina
PURPOSE: The aim of this study was to consider the peculiarities of forming social and household skills, and the criteria for their evaluation, as well as an assessment of functional capacity, in children with hand defects both before and after surgical treatment and rehabilitation courses using a system of games. METHODS: We elaborated and implemented a program of social rehabilitation of preschool children with congenital and acquired hand defects for the development of their functional capabilities and the formation of social and household skills after surgical treatment and prosthetics using play therapy methods...
August 2015: Journal of Children's Orthopaedics
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