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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 -
Annales de Chirurgie Plastique Et... Nov 2022Breast and thoracic deformities of Poland syndrome is a rare malformation known to be difficult to treat. Numerous descriptions of surgical corrections have been...
Breast and thoracic deformities of Poland syndrome is a rare malformation known to be difficult to treat. Numerous descriptions of surgical corrections have been published but none achieved to correct severe cases before description of lipomodeling technique. The aim of this article is to present thoraco-mammary deformity of Poland syndrome, corrections techniques already available and therapeutical indications in primary and secondary cases. Constant anomaly of Poland syndrome is agenesis of sterno-costal part of pectoralis major muscle but other muscular anomalies can be associated. Skin and glandular anomalies present with a fine skin and an absent or hypoplasic subcutaneous fat with a glandular hypoplasia of various degree. Osteo-cartilaginous anomalies can be associated in very severe cases. Clinical sign of Poland syndrome is forced adduction manoeuvre highlighting pectoralis major agenesis. Functional impact of the deformity is low but psychological and psychosocial implications can be very important, supporting an early surgical correction. Therapeutic means are various and accurate descriptions are given in this article: thoracic bony reconstruction, thoracic implant made of silicone elastomer, breast implant, skin expansion, latissimus dorsi pedicled flap, free flaps, breast lipomodeling, Breast-pectoralis flap. Principles of each technique are described and balanced with their actual use in this malformation. Indications have been completely modified these last years due to lipomodeling contribution which represented a huge step in this deformity treatment. In our practice, if autologous reconstruction with lipomodeling is possible, we choose this solution at first. In case of severe thoracic deformity, a silicone elastomer implant made with the help of computed assisted conception can be an important adjunct, mainly by thin young man. In secondary cases, if implant is well tolerated, we found logical to stay in the same reconstruction path and do one or two sessions of lipomodeling in order to improve reconstruction. If implant tolerance is low and skin very thin at risk of exposure, we do recommend a conversion of implant reconstruction to autologous reconstruction. In conclusion, thoraco-mammary deformities of Poland syndrome are rare and hard to treat and should be managed by well trained and experimented surgeons. Breast lipomodeling is a huge step in the treatment of these deformities and should be regarded, in our opinion, as first line treatment if fat deposits are sufficient. In case of low fat provisions or in the thin young man, composite techniques should be used with silicone elastomer implant.
Topics: Breast Implants; Free Tissue Flaps; Humans; Male; Mammaplasty; Poland Syndrome; Silicone Elastomers
PubMed: 35995703
DOI: 10.1016/j.anplas.2022.07.020 -
International Journal of Molecular... May 2023The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians.... (Review)
Review
The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects-most frequently conotruncal cardiac anomalies-thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach.
Topics: Humans; DiGeorge Syndrome; Chromosome Deletion; Heart Defects, Congenital; Molecular Biology; Chromosomes
PubMed: 37176024
DOI: 10.3390/ijms24098317 -
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 -
Cirugia Espanola Mar 2023
Topics: Humans; Female; Breast Neoplasms; Breast; Poland Syndrome
PubMed: 36100049
DOI: 10.1016/j.cireng.2022.09.019 -
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 -
Cureus Aug 2020A 36-year-old man presented with incidental findings of an asymmetric chest with hypoplastic and flattened left anterior chest wall due to absent left pectoralis major....
A 36-year-old man presented with incidental findings of an asymmetric chest with hypoplastic and flattened left anterior chest wall due to absent left pectoralis major. He also had short and webbed fingers in the left hand. These deformities were present since birth. Chest X-ray showed hyperlucency on the left side. Computerized tomography (CT) scan showed an absence of the left pectoralis major. X-ray of the left hand showed hypoplasia of the proximal phalanx and aplasia of the middle and distal phalanges of the second digit, and aplasia of the middle phalanges of the third and fourth digits. A diagnosis of left-sided Poland syndrome with associated ipsilateral brachysyndactyly, which is a very rare entity, was made. The patient opted against any reconstructive procedure as he had a minimal functional limitation.
PubMed: 32944470
DOI: 10.7759/cureus.9755