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The New England Journal of Medicine Jan 2018
Topics: Aged, 80 and over; Fingers; Humans; Male; Muscular Diseases; Pectoralis Muscles; Poland Syndrome
PubMed: 29298145
DOI: 10.1056/nejmicm1709713 -
Indian Journal of Plastic Surgery :... Feb 2022Symbrachydactyly is a rare congenital hand malformation in which a child is born with abnormally short digits that may be webbed, misshaped, or missing, and it is...
Symbrachydactyly is a rare congenital hand malformation in which a child is born with abnormally short digits that may be webbed, misshaped, or missing, and it is usually a unilateral condition. There is no standardized treatment algorithm for the management of symbrachydactyly. The function of the hand is often not adequate and requires early surgical intervention to restore useful prehension and appearance. This CME article presents a brief review of the embryology, history, classification and clinical presentation, and author's experience of treating 19 children with symbrachydactyly over 10 years. Creation of thumb web, lengthening of thumb, and creating an opposition post results in prehension of hand with an improved quality of life.
PubMed: 35444739
DOI: 10.1055/s-0041-1734579 -
Hand (New York, N.Y.) Sep 2016Symbrachydactyly is a unilateral congenital hand malformation characterized by failure of formation of fingers and the presence of rudimentary digit nubbins. The... (Review)
Review
Symbrachydactyly is a unilateral congenital hand malformation characterized by failure of formation of fingers and the presence of rudimentary digit nubbins. The management is variable and are investigated in this review. A detailed review of the literature was compiled into succinct clinically relevant categories. Etiology, classification, non-surgical management, surgical intervention, and patient oriented outcomes are discussed. All interventions should prioritize realistic, evidence-supported appearance and functional gains. Studies of the baseline function and quality of life of children with symbrachydactyly would allow surgeons to better understand functional changes associated with various interventions and would help surgeons and parents to make the best treatment decisions.
Topics: Brachydactyly; Fingers; Humans; Photography; Quality of Life; Treatment Outcome
PubMed: 27698626
DOI: 10.1177/1558944715614857 -
Indian Journal of Human Genetics Jan 2014Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be...
Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.
PubMed: 24959021
DOI: 10.4103/0971-6866.132764 -
Biomedicines Jun 2023Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the... (Review)
Review
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is a rare, inherited lysosomal storage disease. The disease is caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase (I2S) due to mutations in the gene, which leads to accumulation of glycosaminoglycans (GAGs). Deficiency of I2S enzyme activity in patients with MPS II leads to progressive lysosomal storage of GAGs in the liver, spleen, heart, bones, joints, and respiratory tract. This process disturbs cellular functioning and leads to multisystemic disease manifestations. Symptoms and their time of onset differ among patients. Diagnosis of MPS II involves assessment of clinical features, biochemical parameters, and molecular characteristics. Life-long enzyme replacement therapy with idursulfase (recombinant human I2S) is the current standard of care. However, an interdisciplinary team of specialists is required to monitor and assess the patient's condition to ensure optimal care. An increasing number of patients with this rare disease reach adulthood and old age. The transition from pediatric care to the adult healthcare system should be planned and carried out according to guidelines to ensure maximum benefit for the patient.
PubMed: 37371763
DOI: 10.3390/biomedicines11061668 -
Child Neurology Open 2023Moebius Syndrome, is a rare, non-progressive congenital neuropathological syndrome characterized primarily by the underdevelopment of the facial (CN VII) and abducens... (Review)
Review
Moebius Syndrome, is a rare, non-progressive congenital neuropathological syndrome characterized primarily by the underdevelopment of the facial (CN VII) and abducens nerve (CN VI). Other features of Moebius Syndrome include facial nerve paresis, ophthalmoplegias, orthodontic deficiencies (including crowded dentition, swollen and hyperplastic gingiva, dental calculus, etc.), musculoskeletal abnormalities, and impaired mental function. Due to the rarity of the disorder, very few case studies have been reported in the literature. This article summarizes the significant features of the disease according to commonalities in reported cases, along with several newly recognized features cited in recent literature. We have explored the different diagnostic criteria and the newly recognized imaging modalities that may be used. Understandably, the condition detrimentally affects a patient's quality of life; thus, treatment measures have also been outlined. This study aims to provide updated literature on Moebius Syndrome MBS and improve understanding of the condition.
PubMed: 37868706
DOI: 10.1177/2329048X231205405 -
The Pan African Medical Journal 2015
Topics: Adolescent; Back Pain; Humans; Male; Poland Syndrome
PubMed: 26587143
DOI: 10.11604/pamj.2015.21.294.7599 -
The Pan African Medical Journal 2021
PubMed: 33912280
DOI: 10.11604/pamj.2021.38.110.27384