RESUMO
Thrombocytopenia-absent radius (TAR) syndrome is a rare inherited bone marrow failure syndrome not generally associated with acute leukemia. The authors report a case of T-cell acute lymphoblastic leukemia in an adult female individual newly diagnosed with TAR syndrome. A 347-kb microdeletion of chromosome 1q21.1 involving the RBM8A gene was detected within a gain of whole chromosome 1. Next-generation sequencing on fibroblasts confirmed germline heterozygous deletion of RBM8A but on the other allele, noncoding low-frequency regulatory single-nucleotide polymorphism of RBM8A (rs139428292; rs201779890) were not found. The tolerance of the treatment was unusual and mostly marked by a slow hematopoietic recovery leading to a 6-month delay at the beginning of the maintenance phase. Only 5 cases of acute leukemia were reported in patients with TAR syndrome in the literature: 4 acute myeloid leukemia and one B-cell acute lymphoblastic leukemia. This is the first report of T-cell acute lymphoid leukemia occurring in the context of TAR syndrome.
Assuntos
Síndrome Congênita de Insuficiência da Medula Óssea/complicações , Leucemia-Linfoma Linfoblástico de Células T Precursoras/complicações , Trombocitopenia/complicações , Deformidades Congênitas das Extremidades Superiores/complicações , Adulto , Deleção Cromossômica , Síndrome Congênita de Insuficiência da Medula Óssea/genética , Síndrome Congênita de Insuficiência da Medula Óssea/terapia , Feminino , Humanos , Polimorfismo de Nucleotídeo Único , Leucemia-Linfoma Linfoblástico de Células T Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células T Precursoras/terapia , Proteínas de Ligação a RNA/genética , Rádio (Anatomia) , Trombocitopenia/genética , Trombocitopenia/terapia , Deformidades Congênitas das Extremidades Superiores/genética , Deformidades Congênitas das Extremidades Superiores/terapia , Adulto JovemRESUMO
PURPOSE: We present a case of a bilateral reversed palmaris longus muscle and a systematic review of the literature on this anatomical variation. METHODS: Routine dissection of a 90-year-old male cadaver revealed a rare bilateral reversed palmaris longus. This was documented photographically, and length and relation to anatomical landmarks were recorded. This finding stimulated a systematic review of the literature on the reversed palmaris longus variation, from which measurements were collated and statistical analysis performed to determine the prevalence, average length, relationship to side and sex, and to discuss its clinical and evolutionary implications. RESULTS: The average length of the muscle belly and tendon of reversed palmaris longus was 135 mm and 126 mm, respectively. Statistical analysis revealed no disparity in presentation due to sex and side; however, bilateral reversed palmaris longus has only been reported in males. A high proportion (70.8%) of reversed palmaris longus were discovered in the right upper limb compared to the left. CONCLUSION: Variations in palmaris longus are purported to be as a result of phylogenetic regression. Clinically, patients with this variant may present with pain or swelling of the distal forearm, often as a result of intense physical exertion related to occupation or sport. Clinicians should be aware of this muscle variant as its presence could lead to confusion during tendon allograft harvesting procedures in reconstructive and tendon grafting surgery.
Assuntos
Variação Anatômica , Antebraço/anormalidades , Músculo Esquelético/anormalidades , Tendões/anormalidades , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Idoso de 80 Anos ou mais , Cadáver , Antebraço/cirurgia , Humanos , Masculino , Nervo Mediano/anatomia & histologia , Músculo Esquelético/transplante , Neuralgia/etiologia , Procedimentos de Cirurgia Plástica/métodos , Tendões/transplante , Nervo Ulnar/anatomia & histologia , Síndromes de Compressão do Nervo Ulnar/etiologia , Deformidades Congênitas das Extremidades Superiores/complicaçõesRESUMO
A case of volar forearm pain associated with ulnar nerve paresthesia caused by a reversed palmaris longus muscle is described. The patient, an otherwise healthy 46-year-old male laborer, presented after a previous unsuccessful forearm fasciotomy for complaints of exercise exacerbated pain affecting the volar forearm associated with paresthesia in the ulnar nerve distribution. A second decompressive fasciotomy was performed revealing an anomalous "reversed" palmaris longus, with the muscle belly located distally. Resection of the anomalous muscle was performed with full relief of pain and sensory symptoms.
Assuntos
Músculo Esquelético/anormalidades , Dor Musculoesquelética/etiologia , Parestesia/etiologia , Neuropatias Ulnares/etiologia , Deformidades Congênitas das Extremidades Superiores/complicações , Descompressão Cirúrgica , Exercício Físico , Fasciotomia , Antebraço/inervação , Antebraço/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/cirurgia , Dor Musculoesquelética/cirurgia , Parestesia/cirurgia , Neuropatias Ulnares/cirurgia , Deformidades Congênitas das Extremidades Superiores/cirurgiaRESUMO
BACKGROUND: Arthroplasty is a proven treatment option for glenohumeral osteoarthritis. Common indications include primary or posttraumatic osteoarthritis, avascular necrosis of the humeral head, rotator cuff tear arthropathy and rheumatoid osteoarthritis. Arthroplasty is rarely performed among patients with glenohumeral dysmelia. An overuse of the upper limb in patients with thalidomide-induced phocomelia and people with similar congenital deformities like dysmelia results in premature wear of the shoulder joint. This study aims to evaluate our experience with cases of glenohumeral osteoarthritis caused by dysmelia and treated with arthroplasty. To date, few reports on the outcome of shoulder arthroplasty exist on this particular patient group. CASE PRESENTATION: We included four dysmelic patients (five shoulders) with substantial glenoid dysplasia in a prospective database after approval by the local ethics committee. Once conservative treatment options had been exhausted, the patients were treated with shoulder arthroplasty and assessed clinically and radiographically before and after surgery. The mean patient age at the time of surgery was 50.4 years. The minimum follow-up time was 24 months (24-91 months). All patients experienced a considerable improvement of range of motion (ROM) and a relief of pain. No intra- or postoperative complications appeared. CONCLUSION: Patients with dysmelia have acceptable short and mid-term results with resurfacing hemiarthroplasty. It is an effective although somewhat complicated method to relieve pain and improve movement. Long-term performance of arthroplasty in patients with dysmelia remains to be seen, particularly with regard to the remaining problem of the altered and often deficient glenoid.
Assuntos
Artroplastia do Ombro , Qualidade de Vida , Articulação do Ombro/diagnóstico por imagem , Articulação do Ombro/cirurgia , Deformidades Congênitas das Extremidades Superiores/diagnóstico por imagem , Deformidades Congênitas das Extremidades Superiores/cirurgia , Artroplastia do Ombro/tendências , Feminino , Humanos , Osteoartrite/diagnóstico por imagem , Osteoartrite/etiologia , Osteoartrite/cirurgia , Resultado do Tratamento , Deformidades Congênitas das Extremidades Superiores/complicaçõesAssuntos
Ossos do Carpo/anormalidades , Deformidades Congênitas dos Membros/diagnóstico por imagem , Rádio (Anatomia)/anormalidades , Polegar/anormalidades , Anormalidades Induzidas por Medicamentos/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Amniocentese , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Canal Anal/anormalidades , Ossos do Carpo/diagnóstico por imagem , Amostra da Vilosidade Coriônica , Síndrome Congênita de Insuficiência da Medula Óssea/complicações , Síndrome Congênita de Insuficiência da Medula Óssea/diagnóstico , Síndrome Congênita de Insuficiência da Medula Óssea/genética , Diagnóstico Diferencial , Esôfago/anormalidades , Anemia de Fanconi/complicações , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/genética , Feminino , Testes Genéticos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Comunicação Interatrial/complicações , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/genética , Humanos , Rim/anormalidades , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas das Extremidades Inferiores/complicações , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/genética , Análise em Microsséries , Gravidez , Rádio (Anatomia)/diagnóstico por imagem , Coluna Vertebral/anormalidades , Trombocitopenia/complicações , Trombocitopenia/diagnóstico , Trombocitopenia/genética , Polegar/diagnóstico por imagem , Traqueia/anormalidades , Síndrome da Trissomia do Cromossomo 13/complicações , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/complicações , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética , Ultrassonografia Pré-Natal , Deformidades Congênitas das Extremidades Superiores/complicaçõesRESUMO
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive disease caused by mutation in proteoglycan 4 (PRG4) gene on chromosome 1q25-q31. We faced a dilemma and delay in diagnosis in two sisters. The elder sister had pericardial effusion with constrictive pericarditis, underwent pericardiectomy and received empirical treatment for suspected tuberculosis. After 2 years, she developed bilateral knee swelling with restriction of movement. At the same time, her younger sister also presented with bilateral knee swelling which aroused the suspicion of genetic disease. The whole-genome sequencing revealed homozygous PRG4 mutation suggestive of CACP syndrome.
Assuntos
Coxa Vara , Humanos , Feminino , Coxa Vara/diagnóstico , Proteoglicanas/genética , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/diagnóstico , Artropatia Neurogênica/genética , Artropatia Neurogênica/diagnóstico , Derrame Pericárdico/diagnóstico , Deformidades Congênitas das Extremidades Superiores/genética , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Deformidades Congênitas das Extremidades Superiores/complicações , Pericardite Constritiva/diagnóstico , Pericardite Constritiva/complicações , Pericardite Constritiva/cirurgia , Deformidades Congênitas das Extremidades Inferiores/genética , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Pericardiectomia , Mutação , Diagnóstico Diferencial , SinoviteAssuntos
Braço/anormalidades , Anormalidades Musculoesqueléticas/etiologia , Trombocitopenia/diagnóstico , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Síndrome Congênita de Insuficiência da Medula Óssea , Diagnóstico Diferencial , Humanos , Recém-Nascido , Masculino , Rádio (Anatomia) , Trombocitopenia/complicações , Deformidades Congênitas das Extremidades Superiores/complicaçõesRESUMO
Holt-Oram syndrome (HOS) is characterised by mild to severe congenital cardiac defects and skeletal abnormalities of the upper limb. This syndrome is also referred to as Hand-Heart syndrome. The most common cardiac disorder is an ostium secundum detected an atrial septal defect (ASD), followed by ventricular septal defect (VSD) and ostium primum ASD. We report a case of HOS with tetralogy of Fallot (TOF). This association is very rare and is hardly reported in the literature.
Assuntos
Cardiopatias Congênitas/complicações , Comunicação Interatrial/complicações , Deformidades Congênitas das Extremidades Inferiores/complicações , Tetralogia de Fallot/complicações , Deformidades Congênitas das Extremidades Superiores/complicações , Anormalidades Múltiplas/diagnóstico , Pré-Escolar , Ecocardiografia Doppler , Eletrocardiografia , Feminino , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/diagnóstico , Humanos , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Tetralogia de Fallot/diagnóstico , Deformidades Congênitas das Extremidades Superiores/diagnósticoRESUMO
OBJECTIVE: The aim of this study was to evaluate the results of 2-stage treatment of upper and lower extremity deformities in patients with thrombocytopenia absent radius syndrome. METHODS: Four patients (3 female, 1 male) with a mean age of 1.8 years (range 1-4) were included in the study. The patients were followed up for an average of 5.5 years. All 4 patients had bilateral radial longitudinal deficiency, whereas only 2 patients had bilateral fixed knee contractures. A 2-stage surgical procedure was implemented. The surgical procedure performed for radial longitudinal deficiency consisted of distraction with an Ilizarov frame in the first stage, followed by centralization performed in the second stage. Knee contractures were first treated using an Ilizarov frame, followed by a hamstring tendon transfer in the second procedure. Radiological evaluation of the radial longitudinal deficiency was done by measuring hand-forearm angle, hand-forearm position, and ulnar bowing preoperatively and at postoperative follow-ups. Knee contracture was evaluated by measuring the angle preoperatively and at postoperative follow-ups. RESULTS: The mean hand-forearm angle values of patients at preoperative assessment, early postoperative period, and at the last follow-ups were 82.60, 5,80, and 11.10, respectively (P < .001). The hand-forearm position values were -14.25 mm, +11, and +7.1 mm, respectively (P < .001). The ulnar bowing values were 7.3°, 4.5°, and 2.9°, respectively (P < .001). Recurrence of the radial longitudinal deficiency deformity requiring surgery occurred in 1 patient. In the other 3 patients, some deformity recurred but did not require surgical intervention. In addition, 1 patient with knee flexion contracture had a recurrence of the contracture that did not require surgical intervention. There was no circulatory disorder or skin necrosis in the lower or upper extremities of the patients. CONCLUSION: This study has shown us that two-stage treatment is a reliable method for lower and upper extremity deformities accompanying thrombocytopenia absent radius syndrome. However, recurrence is still a major problem. LEVEL OF EVIDENCE: Level IV, Therapeutic Study.
Assuntos
Contratura , Luxações Articulares , Deformidades Congênitas das Extremidades Superiores , Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Resultado do Tratamento , Deformidades Congênitas das Extremidades Superiores/complicações , Deformidades Congênitas das Extremidades Superiores/cirurgia , Antebraço , Rádio (Anatomia)/diagnóstico por imagem , Rádio (Anatomia)/cirurgia , Rádio (Anatomia)/anormalidades , Luxações Articulares/cirurgia , Contratura/etiologia , Contratura/cirurgiaRESUMO
The Holt-Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt-Oram syndrome patients and should be added to the list of possible associated cardiac defects.
Assuntos
Anomalias dos Vasos Coronários/complicações , Anomalias dos Vasos Coronários/genética , Cardiopatias Congênitas/complicações , Comunicação Interatrial/complicações , Deformidades Congênitas das Extremidades Inferiores/complicações , Proteínas com Domínio T/genética , Deformidades Congênitas das Extremidades Superiores/complicações , Anormalidades Múltiplas , Adulto , Anomalias dos Vasos Coronários/diagnóstico por imagem , Comunicação Interatrial/diagnóstico por imagem , Comunicação Interatrial/cirurgia , Humanos , Masculino , Mutação , RadiografiaRESUMO
This study aimed to analyze the epidemiology of congenital upper limb anomalies (CULA) in Korea. We evaluated the incidence of each type of CULA, the presence of coexisting anomalies and the surgical treatment status in CULA patients. We conducted a retrospective cohort study of patients aged < 1 year between 2007 and 2016 who were registered with CULA in the Health Insurance Review and Assessment Service of Korea. In total, 10,704 patients had CULA, including 6,174 boys (57.7%) and 4,530 girls (42.3%). The mean annual incidence of CULA was 23.5 per 10,000 live births; it was significantly higher in boys than in girls (26.3 vs. 20.5, p < 0.001). Among the four categories of CULA-polydactyly, syndactyly, limb deficiency, and other anomalies-polydactyly was the most common. In total, 4,149 patients (38.8%) had other congenital anomalies and coexisting anomalies of the circulatory system (24.9%) were the most common. In total 4,776 patients (44.6%) underwent operative treatment for CULA within minimum three years of the diagnosis. The proportion of patients who underwent surgical treatment was significantly higher for polydactyly (73.4% vs. 16.8%, p < 0.001) and syndactyly (65.3% vs. 41.5%, p < 0.001), but it was significantly lower in limb deficiency (27.6% vs. 45.4%, p < 0.001) and other anomalies (10.0% vs. 69.8%, p < 0.001) than rest of CULA patients. Among the patients who had operations, 21.5% underwent multiple operations. The proportion of patients who underwent multiple operations was significantly higher in syndactyly (35.6% vs. 18.1%, p < 0.001), but it was significantly lower in polydactyly (4.0% vs. 95.5%, p < 0.001) and other anomalies (17.9% vs. 21.9%, p < 0.001) than rest of CULA patients. These results could provide a basis for estimating the national healthcare costs for CULA and the required number of CULA specialists.
Assuntos
Deformidades Congênitas das Extremidades Superiores/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Masculino , República da Coreia/epidemiologia , Estudos Retrospectivos , Fatores Sexuais , Deformidades Congênitas das Extremidades Superiores/complicações , Deformidades Congênitas das Extremidades Superiores/diagnósticoRESUMO
Holt-Oram syndrome (HOS) is a rare, autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene. A wide spectrum of TBX5 mutations have been reported previously, most resulting in a null allele leading to haploinsufficiency. TBX5 gene duplications have been previously reported in association with typical and atypical HOS phenotypes. Ulnar-Mammary syndrome (UMS) is a distinct rare, autosomal dominant condition caused by mutations in the TBX3 gene. TBX5 and TBX3 are physically linked in cis on human chromosome 12 and contiguous chromosome 12q24 deletions comprising both TBX5 and TBX3 genes have been previously reported but to our knowledge, duplications have never been described. We report on a large German family with at least 17 affected individuals over 6 generations bearing a duplication at 12q24.21 identified on array-CGH comprising both TBX5 and TBX3 genes. Affected patients are presenting with HOS and UMS symptoms, consisting of variable limb anomalies involving the radial and the ulnar rays and cardiac findings such as congenital heart defects, persistent arterial duct or aortic stenosis, and non-classical symptoms, such as supernumerary nipples and cardiomyopathy. Fluorescence in situ hybridisation confirmed a tandem duplication at the 12q24.21 locus. This is the first report of a contiguous TBX3/TBX5 duplication associated with HOS/UMS phenotype.
Assuntos
Anormalidades Múltiplas/genética , Doenças Mamárias/genética , Cardiopatias Congênitas/genética , Comunicação Interatrial/genética , Deformidades Congênitas das Extremidades Inferiores/genética , Fenótipo , Proteínas com Domínio T/genética , Ulna/anormalidades , Deformidades Congênitas das Extremidades Superiores/genética , Anormalidades Múltiplas/patologia , Doenças Mamárias/complicações , Doenças Mamárias/patologia , Feminino , Duplicação Gênica , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/patologia , Comunicação Interatrial/complicações , Comunicação Interatrial/patologia , Humanos , Deformidades Congênitas das Extremidades Inferiores/complicações , Deformidades Congênitas das Extremidades Inferiores/patologia , Masculino , Linhagem , Ulna/patologia , Deformidades Congênitas das Extremidades Superiores/complicações , Deformidades Congênitas das Extremidades Superiores/patologiaRESUMO
Cardiomyelic syndromes have skeletal malformations of the upper limb and congenital heart disease, and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is characterized by upper-extremity malformations involving the radial, thenar, or carpal bones and congenital heart defects. It is inherited in an autosomal dominant manner, a mutation in TBX5 gene located on chromosome 12 (12q24.1) is associated with variable phenotypes. This is an unusual case of a patient with Holt-Oram syndrome associated with facial anomalies: hemifacial microsomia on the right side, forehead prominent and tall, hypertelorism, depressed nasal bridge, low set ears and micrognathia. The presentation broadens the clinical spectrum with delineation of facial dysmorphic features.
Assuntos
Face/anormalidades , Anormalidades Múltiplas , Pré-Escolar , Feminino , Cardiopatias Congênitas/complicações , Comunicação Interatrial/complicações , Humanos , Deformidades Congênitas das Extremidades Inferiores/complicações , Fenótipo , Deformidades Congênitas das Extremidades Superiores/complicaçõesRESUMO
Speckled lentiginous nevus syndrome is a recently described neurocutaneous disorder characterized by speckled lentiginous nevus in association with hyperhidrosis, skin dysesthesia, and muscular weakness in an ipsilateral manner. We report a 9-year-old boy with a large speckled lentiginous nevus on his trunk, bilateral upper extremities, and neck associated with hyperhidrosis and nonspecific pain in the distribution of the nevus in addition to prominent upper extremity asymmetry and scoliosis. Similar musculoskeletal abnormalities have been reported in patients with phacomatosis pigmentovascularis and phacomatosis pigmentokeratotica which feature speckled lentiginous nevus; however, this patient demonstrates striking musculoskeletal abnormalities in the absence of coexisting vascular lesions or nevus sebaceous.
Assuntos
Hiperidrose/complicações , Síndromes Neurocutâneas/diagnóstico , Nevo Pigmentado/congênito , Escoliose/complicações , Neoplasias Cutâneas/congênito , Deformidades Congênitas das Extremidades Superiores/complicações , Criança , Humanos , Masculino , Debilidade Muscular/complicações , Nevo Pigmentado/patologia , Parestesia/complicações , Neoplasias Cutâneas/patologiaRESUMO
Gastroschisis is a malformation of the anterior abdominal wall that presents as herniation of abdominal contents through a paramedian abdominal defect, usually to the right side of the midline. The defect involves all the layers of the abdominal wall and there is no membranous covering. In newborns with isolated gastroschisis, the overall prognosis is very good. In rare cases, gastroschisis is associated with other congenital malformations, making the prognosis worse. We herein report a rare case of left-sided gastroschisis associated with meromelia of the limbs.
Assuntos
Parede Abdominal/patologia , Gastrosquise/complicações , Deformidades Congênitas das Extremidades Inferiores/complicações , Deformidades Congênitas das Extremidades Superiores/complicações , Parede Abdominal/diagnóstico por imagem , Adulto , Feminino , Gastrosquise/diagnóstico por imagem , Humanos , Recém-Nascido , Deformidades Congênitas das Extremidades Inferiores/diagnóstico por imagem , Gravidez , Natimorto , Ultrassonografia , Deformidades Congênitas das Extremidades Superiores/diagnóstico por imagemAssuntos
Prótese de Cotovelo , Instabilidade Articular/cirurgia , Articulação Metacarpofalângica , Rádio (Anatomia)/cirurgia , Deformidades Congênitas das Extremidades Superiores/cirurgia , Feminino , Humanos , Luxações Articulares/congênito , Luxações Articulares/cirurgia , Instabilidade Articular/etiologia , Prótese Articular , Pessoa de Meia-Idade , Osteoartrite/etiologia , Osteoartrite/cirurgia , Implantação de Prótese , Rádio (Anatomia)/anormalidades , Deformidades Congênitas das Extremidades Superiores/complicaçõesRESUMO
CASE REPORT: A 47 year old female with severe deficiency of three limbs visited our Genetic Counselling Clinic and asked us to give her a certificate that her complex limb deficiency was caused by thalidomide (Contergan). According to her explanation, her mother used this drug during pregnancy which was given to her by her sister, who lived in West Germany. The characteristic signs of thalidomide embryopathy are: radial type limb deficiency including most severe forms of phocomelia and amelia, ear abnormalities. In the case of this woman, however, FFU (femoral-fibula-ulna) complex was found: bilateral femur hypoplasia (F), and fibular hypoplasia (F) with the lack of Vth and IVth toes, in addition with ulnar hypoplasia (U) with the deficiency of Vth and IVth fingers in her right upper limb. The left upper limb was not affected. Besides that, she was treated with schizophrenia. In conclusion, there is no association between the supposed thalidomide use during pregnancy and FFU complex.
Assuntos
Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Teratogênicos , Talidomida/efeitos adversos , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Diagnóstico Diferencial , Feminino , Fêmur/anormalidades , Fíbula/anormalidades , Humanos , Hungria , Deformidades Congênitas das Extremidades Inferiores/complicações , Deformidades Congênitas das Extremidades Inferiores/diagnóstico por imagem , Deformidades Congênitas das Extremidades Inferiores/patologia , Pessoa de Meia-Idade , Mães , Gravidez , Radiografia , Esquizofrenia/complicações , Talidomida/administração & dosagem , Ulna/anormalidades , Deformidades Congênitas das Extremidades Superiores/complicações , Deformidades Congênitas das Extremidades Superiores/diagnóstico por imagem , Deformidades Congênitas das Extremidades Superiores/patologiaRESUMO
Mesomelic dysplasias (MD) are a group of skeletal disorders with exclusive or predominant shortness of the middle segment of the limbs, with or without involvement of the hands/feet or other body parts. Short stature is a usual consequence due to involvement of the lower limbs. In 2003, Camera and Camera reported an unusual upper limb MD with normal stature and radiological evidence of long bone metaphyseal dysplasia. Here, we describe a Mexican patient showing a similar clinical and radiological phenotype, in addition to esophageal atresia, palpebral ptosis and slight lower limb asymmetry. This represents the second case reported in the literature, corroborating the existence of this rare entity.
Assuntos
Estatura , Osteocondrodisplasias/complicações , Deformidades Congênitas das Extremidades Superiores/complicações , Estatura/fisiologia , Pré-Escolar , Humanos , Masculino , MéxicoRESUMO
There is an increased incidence of scoliosis in patients with congenital malformations of the upper extremity even in the absence of overt vertebral abnormalities. In this case series, we summarize the curve characteristics of four patients presenting to two spine surgery clinics with unilateral amelia or phocomelia and a progressive scoliotic curve with the apex on the side of deficiency. All patients required orthopedic intervention for their curves. Amelia and phocomelia are severe congenital malformations of the upper limb affecting trunk balance and, conceivably, causing scoliosis with the absence of counterbalancing weight on the affected side. The combination of upper limb absence and same-sided scoliosis in these patients may provide a clue of the mechanical factors causing scoliosis in other disorders. In this article, we attempt to define this exceptional deformity, theorize on its etiology, and draw attention to this particular combination of problems. LEVEL OF EVIDENCE: Case series; Level IV.
Assuntos
Ectromelia/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Escoliose/diagnóstico por imagem , Vértebras Torácicas/diagnóstico por imagem , Deformidades Congênitas das Extremidades Superiores/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Ectromelia/complicações , Feminino , Humanos , Masculino , Escoliose/etiologia , Deformidades Congênitas das Extremidades Superiores/complicaçõesRESUMO
We report a case of a term baby presenting with neonatal cholestasis and upper limb flexion deformity on day 4 of life. On further evaluation, high gamma glutamyl transpeptidase (GGT) levels and absent left kidney were found. A diagnosis of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome was made which is a rare autosomal recessive disorder with primarily clinical diagnosis. Outcome of this condition is dismal. It has a large spectrum of clinical manifestations, but association with high GGT levels and absent kidney is quite rare. No single case report has observed such an association, and this is the first case of ARC syndrome reported from India to the best of our knowledge.