Subject(s)
Humans , Male , Aged, 80 and over , Myocardial Ischemia , Finger Phalanges/abnormalities , Hand Injuries , Hypertension , Traumatology , Internal MedicineABSTRACT
Objectives: Brachdactyly a genetic disorder associated with the abnormal development of metacarpals, phalanges or both which results in the shortening of hands and feet. Mutations in the contributing genes has been recognized with the majority of the investigated syndromic form of brachdactyly. The current study was proposed to examine mutation in NOG and GDF5 genes in a Pakistani family
Methods: Poly Acrylamide Gel Electrophoresis and Polymerase Chain Reaction was used for the genomic screening and linkage analysis to observe the mutation in genes. The samples were collected from Luckki Marwat district, KPK, while the research study was conducted in the department of Biochemistry, Quaid-IAzam University, Islamabad, Pakistan
Results: After survey, family was identified with brachdactyly type A2 and investigated a heterozygous arginine to glutamine exchange in the growth demarcation factor 5 in all the victim persons. Different types of skeletal dysplasia resulted due to mutation in the GDF5 genes. Novel GDF5 genes mutations were reported with distinct limb malformation and sequencing of coding region revealed that the mildly affected individuals were heterozygous while the harshly affected individuals were homozygous
Conclusion: The current study reported the genetic variability and concluded that the Brachdacytyly type A2 and type B2 resulted due to mutation in GDF5 and NOG genes respectively. A new subtype of brachydactyly [BDB2] was instigated as a result of novel mutations in NOG. The mutation has been reported for the first time in Pakistani population and especially in Pushtoon ethnic population
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Mutation , Genotype , Finger Phalanges/abnormalities , Pedigree , Genetic Linkage , Polymerase Chain Reaction , Electrophoresis, Polyacrylamide Gel , Growth Differentiation Factor 5 , Carrier ProteinsABSTRACT
Resumo A síndrome tricorrinofalangiana (STRF) tipo I é uma doença genética rara, relacionada com a mutação no gene TRPS1 do cromossomo 8. É caracterizada por anomalias craniofaciais e distúrbios na formação e maturação da matriz óssea. As características são cabelos ralos e quebradiços, tendência à calvície prematura, nariz bulboso em formato de pera, filtro nasal longo e plano e baixa implantação das orelhas. As alterações esqueléticas mais notáveis são a clinodactilia, as epífises das falanges das mãos em forma de cone, a baixa estatura e as malformações na articulação do quadril. Relata-se o caso de um adolescente diagnosticado com STRF e encaminhado para avaliação reumatológica em decorrência de queixas articulares.
Abstract The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints.
Subject(s)
Humans , Male , Adolescent , Transcription Factors/genetics , Langer-Giedion Syndrome/diagnosis , Langer-Giedion Syndrome/genetics , Nose/abnormalities , Arthralgia/etiology , DNA-Binding Proteins/genetics , Hair Diseases/diagnosis , Hair Diseases/genetics , Syndrome , Langer-Giedion Syndrome/physiopathology , Nose/physiopathology , Arthralgia/genetics , Finger Phalanges/abnormalities , Fingers/abnormalities , Fingers/physiopathology , Hair Diseases/physiopathologyABSTRACT
Abstract The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.
Subject(s)
Humans , Male , Adolescent , Finger Phalanges , Nails, Malformed , Syndrome , Radiography , Rare Diseases/congenital , Rare Diseases/diagnostic imaging , Finger Phalanges/abnormalities , Finger Phalanges/diagnostic imaging , Fingers/abnormalities , Fingers/diagnostic imaging , Nails, Malformed/congenital , Nails, Malformed/diagnostic imagingABSTRACT
Os autores descrevem a evolução de um caso de macrodactilia digital progressiva na mão ao longo de 10 anos e os programas cirúrgicos e de reabilitação utilizados. Criança do sexo feminino foi admitida no Hospital de Reabilitação aos 10 meses de idade, apresentava macrodactilia digital progressiva no II e III quirodáctilos da mão esquerda. Evoluiu com síndrome do túnel do carpo, atrofia e perda da oponência do polegar. Aos dois anos, foi submetida a amputação do III raio; aos seis anos, a encurtamento do II dedo, epifisiodese e, aos nove anos, a retinaculotomia dos flexores, amputação do II raio e restauração da oponência do polegar com a transferência do extensor próprio do índex. Foram necessários vários procedimentos e métodos de tratamento para o alívio dos sintomas de compressão do nervo mediano e resultado final funcional satisfatório. Os autores recomendam a amputação como opção cirúrgica e o tratamento precoce da síndrome do túnel do carpo.
The authors describe the progress over a ten year period of a single hand macrodactyly digital progressive case and corresponding surgical and rehabilitation procedures used. The female child was first evaluated at the hospital at the age of 10 months, with macrodactyly digital progressive at I and II fingers of the left hand. Afterwards she developed carpal tunnel syndrome, atrophy and lost of thumb opposition. The third ray was amputated at age 2. At age 6 she was realized finger shortening, physeal arrest and at age 9 a carpal tunnel release, II ray resection and proprius extensor tendon opponensplasty. Many interventions and treatment methods were required to relieve the compression symptoms of the median nerve and satisfactory final functional result. The authors recommend amputation as a surgical option and early carpal tunnel release.
Subject(s)
Humans , Female , Infant , Carpal Tunnel Syndrome , Congenital Abnormalities , Hand Deformities, Acquired/surgery , Hand Deformities, Congenital/surgery , Finger Phalanges/abnormalities , Gigantism/pathology , Methods , Diagnostic Techniques and ProceduresABSTRACT
Tissue expanders can be used over the dorsum of hand and fingers to increase available tissue for flap coverage after release of syndactyly. Herein, we presented an 18-year-old man who had an unusual complex syndactyly in the middle and ring fingers of his right hand. He had also complete fusion of the proximal phalanges. In this report, we described the application of tissue expander to cover separated exposed bones