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Achiya Zvi Amir, Gadi Horev, Joanne Yacobovich, Michael Bennett, Hannah Tamary
The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies...
October 19, 2016: American Journal of Medical Genetics. Part A
Loïc Broix, Hélène Jagline, Ekaterina L Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton-Smith, Alistair T Pagnamenta, Kay A Metcalfe, Bertrand Isidor, Ulrike Walther Louvier, Annapurna Poduri, Jenny C Taylor, Peggy Tilly, Karine Poirier, Yoann Saillour, Nicolas Lebrun, Tristan Stemmelen, Gabrielle Rudolf, Giuseppe Muraca, Benjamin Saintpierre, Adrienne Elmorjani, Martin Moïse, Nathalie Bednarek Weirauch, Renzo Guerrini, Anne Boland, Robert Olaso, Cecile Masson, Ratna Tripathy, David Keays, Cherif Beldjord, Laurent Nguyen, Juliette Godin, Usha Kini, Patrick Nischké, Jean-François Deleuze, Nadia Bahi-Buisson, Izabela Sumara, Maria-Victoria Hinckelmann, Jamel Chelly
Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown. Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay. Cellular and expression data showed sensitivity of PNH-associated mutants to proteasome degradation. Moreover, an in utero electroporation approach showed that PNH-related mutants and excess wild-type NEDD4L affect neurogenesis, neuronal positioning and terminal translocation...
October 3, 2016: Nature Genetics
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
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
Miho Kawaida, Tokiya Abe, Toshio Nakanishi, Yoko Miyahara, Hiroyuki Yamagishi, Michiie Sakamoto, Taketo Yamada
Timothy syndrome (TS) is a congenital long QT syndrome that is associated with syndactyly and mutations in CACNA1C, encoding an L-type voltage-dependent calcium channel, Cav1.2. Recently, TS has been associated with autism and other psychological disorders. This case indicated bradycardia by prenatal screening and was diagnosed as TS by the occurrence of syndactyly and QT prolongation at birth. Despite therapy with anti-arrhythmia reagents and a pacemaker, the patient died 2 months after birth and was autopsied...
October 2016: Pathology International
Somchit Jaruratanasirikul, Boonsin Tangtrakulwanich, Pornruedee Rachatawiriyakul, Hutcha Sriplung, Wannee Limpitikul, Pathikan Dissaneevate, Nattasit Khunnarakpong, Pongsak Tantichantakarun
This is the first population-based study in Thailand on the prevalence of congenital limb defects (CLD). Data were obtained from recently established birth defects registries in three southern Thailand provinces during 2009-2013. Entries in the birth defects registries included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following a prenatal diagnosis of fetal anomaly. The total of 186 393 births recorded included 424 CLD cases, giving an average prevalence of 2...
September 2016: Congenital Anomalies
Pedro L T Justolin, Sheila C Rahal, Felipe S Agostinho, Maria J Mamprim, Carlos R Teixeira, Danuta P Doiche, Vivian R Babicsak
OBJECTIVE To characterize a population of Brazilian minipigs with naturally occurring syndactyly by use of plain radiographs and CT images and to evaluate kinetic and temporospatial variables by use of a pressure-sensing walkway. ANIMALS 10 Brazilian minipigs from 6 to 8 months of age (group 1, 5 healthy pigs [body weight, 10.5 to 18.5 kg]; group 2, 5 pigs with syndactyly [body weight, 7.5 to 18.0 kg]). PROCEDURES Forelimbs and hind limbs of all pigs were assessed by use of radiography and CT. Gait was analyzed by use of a pressure-sensing walkway...
September 2016: American Journal of Veterinary Research
Naoshige Iida, Ayako Watanabe
Bandoh reported the 3-square-flap method as a procedure for interdigital space reconstruction in patients with minor syndactyly. We recently modified this flap design so that it could be used in the treatment of toe syndactyly involving fusion of the areas distal to the proximal interphalangeal joint. With our method, the reconstructed interdigital space consists of 4 oblong flaps (A through D). Flaps A and D are designed on the dorsal side, flap B is designed on the frontal plane of the interdigital space, and flap C is designed on the plantar side...
July 2016: Plastic and Reconstructive Surgery. Global Open
Hitomi Kakutani, Yoshiaki Sato, Yuri Tsukamoto-Takakusagi, Fumio Saito, Akihiko Oyama, Junichiro Iida
Apert syndrome is a rare craniosynostosis syndrome characterized by irregular craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. Previous studies analyzed individuals with Apert syndrome and reported some facial and intraoral features caused by severe maxillary hypoplasia. However, these studies were performed by analyzing both individuals who had and those had not received a palate repair surgery, which had a high impact on the maxillary growth and occlusion. To highlight the intrinsic facial and intraoral features of Apert syndrome, 5 Japanese individuals with Apert syndrome from 5 years and 2 months to 9 years and 10 months without cleft palate were analyzed in this study...
August 17, 2016: Congenital Anomalies
Kamil A Grajski
Mechanisms underlying the emergence and plasticity of representational discontinuities in the mammalian primary somatosensory cortical representation of the hand are investigated in a computational model. The model consists of an input lattice organized as a three-digit hand forward-connected to a lattice of cortical columns each of which contains a paired excitatory and inhibitory cell. Excitatory and inhibitory synaptic plasticity of feedforward and lateral connection weights is implemented as a simple covariance rule and competitive normalization...
2016: Frontiers in Computational Neuroscience
Elise B Burger, Steven E R Hovius, Bart J Burger, Christianne A van Nieuwenhoven
BACKGROUND: Polydactyly at the medial side of the foot ("medial polydactyly" of the foot) is a rare and diverse congenital anomaly. In order to plan and evaluate surgical treatment, the classification of medial polydactyly is useful. The aim of our study was to develop a reliable and valid classification system for medial polydactyly of the foot that is more useful than previous systems for preoperative evaluation and surgical planning. METHODS: A review of the literature and the clinical experience of a single experienced surgeon were used to determine classification categories...
August 3, 2016: Journal of Bone and Joint Surgery. American Volume
Mark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, Shu Yau, Suzanne Lillis, Jane A Hurst, Emma Clement, William Reardon, Shelagh Joss, Emma Hobson, Moira Blyth, Maryam Al-Shehhi, Sally A Lynch, Mohnish Suri
Rubinstein-Taybi syndrome (RTS) is an autosomal dominant neurodevelopmental disorder characterized by growth deficiency, broad thumbs and great toes, intellectual disability and characteristic craniofacial appearance. Mutations in CREBBP account for around 55% of cases, with a further 8% attributed to the paralogous gene EP300. Comparatively few reports exist describing the phenotype of Rubinstein-Taybi because of EP300 mutations. Clinical and genetic data were obtained from nine patients from the UK and Ireland with pathogenic EP300 mutations, identified either by targeted testing or by exome sequencing...
October 2016: Clinical Dysmorphology
Tetsushi Aizawa, Shinji Togashi, Yasushi Haga, Yoshio Nakayama, Mitsuru Sekido, Tomoharu Kiyosawa
BACKGROUND: Conventional surgery of toe syndactyly is accomplished using a zig-zag incision and full thickness or split thickness skin grafting. However, this method has an aesthetic problem with a prominent scar on the dorsal side of the foot. The aim of the article was to investigate the efficacy of a cosmetically conscious operation for syndactylies performed using a single technique. METHODS: A retrospective analysis was performed involving 66 patients with 88 syndactylic toes who presented to the department of plastic and reconstructive surgery at 1 of 3 major institutions during a 16-year period (1998-2014)...
July 11, 2016: Annals of Plastic Surgery
J B Cole, D J Null, P M VanRaden
Phenotypes from the August 2015 US national genetic evaluation were used to compute phenotypic effects of 18 recessive haplotypes in Ayrshire (n=1), Brown Swiss (n=5), Holstein (n=10), and Jersey (n=2) cattle on milk, fat, and protein yields, somatic cell score (SCS), single-trait productive life (PL), daughter pregnancy rate (DPR), heifer conception rate (HCR), and cow conception rate (CCR). The haplotypes evaluated were Ayrshire haplotype 1, Brown Swiss haplotypes 1 and 2, spinal dysmyelination, spinal muscular atrophy, Weaver Syndrome, brachyspina, Holstein cholesterol deficiency, Holstein haplotypes 1 to 5, bovine leukocyte adhesion deficiency, complex vertebral malformation, mulefoot (syndactyly), and Jersey haplotypes 1 and 2...
September 2016: Journal of Dairy Science
Andrew P Landstrom, Nicole J Boczek, Dan Ye, Christina Y Miyake, Caridad M De la Uz, Hugh D Allen, Michael J Ackerman, Jeffrey J Kim
BACKGROUND: Mutations in the CACNA1C-encoded L-type calcium channel have been associated with Timothy syndrome (TS) with severe QT prolongation, syndactyly, facial dysmorphisms, developmental delay, and sudden death. Recently, patients hosting CACNA1C mutations with only long QT syndrome (LQTS) have been described. We sought to identify novel variants in CACNA1C associated with either TS or LQTS, and to determine the impact of the mutation on channel function. METHODS/RESULTS: Two probands were identified with mutations in CACNA1C, one with a TS-associated mutation, G406R, and a second with genotype-negative LQTS...
October 1, 2016: International Journal of Cardiology
Evgeny N Suspitsin, Evgeny N Imyanitov
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life...
May 2016: Molecular Syndromology
F Unglaub, M F Langer, P Hahn, L P Müller, F Cakmak, C K Spies
Many congenital malformations of the hand and forearm, e. g. polydactyly, thumb duplication, syndactyly and radial aplasia, are already evident at birth and newborns are promptly referred to specialized departments. In contrast, orthopedic surgeons are often confronted with malformations of the hand and forearm, which gradually become clinically conspicuous during growth. This review article focuses on these specific malformations, which regularly upset the patients in practice and in most cases the parents even more so...
July 2016: Der Orthopäde
Z Buja, H Arifi, E Hoxha, S Duqi
Burn injuries are very frequent in Kosovo, leading to long-lasting physical, functional, aesthetic, psychological and social consequences directly proportional to the time of healing; the longer it takes for the burn wound to heal, the more serious are the sequelae. The objectives of the present study are to review the epidemiological, clinical and therapeutic aspects of burn patients presenting with post-burn sequelae and treated at the Department of Plastic and Reconstructive Surgery, Pristina, Kosovo, from January 2005 until December 2011...
September 30, 2015: Annals of Burns and Fire Disasters
Christopher M Watson, Laura A Crinnion, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, David T Bonthron, Eamonn Sheridan
Next generation sequencing methodologies are facilitating the rapid characterisation of novel structural variants at nucleotide resolution. These approaches are particularly applicable to variants initially identified using alternative molecular methods. We report a child born with bilateral postaxial syndactyly of the feet and bilateral fifth finger clinodactyly. This was presumed to be an autosomal recessive syndrome, due to the family history of consanguinity. Karyotype analysis revealed a homozygous pericentric inversion of chromosome 7 (46,XX,inv(7)(p15q21)x2) which was confirmed to be heterozygous in both unaffected parents...
2016: PloS One
Bo Wang, Niu Li, Juan Geng, Zhigang Wang, Qihua Fu, Jian Wang, Yunlan Xu
Synpolydactyly (SPD) is an autosomal dominant limb malformation with a distinctive combination of syndactyly and polydactyly. SPD is clinically heterogeneous and could be genetically classified into three types. The clinical phenotype of SPD is complicated by its variable expressivity. In the present study, whole exome sequencing (WES) was used to identify the affected gene(s) in a Chinese family with atypical SPD phenotype. Our results showed that a novel heterogenous nonsense mutation (c.556C > T, p...
June 2, 2016: Congenital Anomalies
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