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The Journal of Foot and Ankle Surgery :... 2023Brachymetatarsia is a congenital osseous and soft tissue deformity of a ray(s) of the foot. Because there is no particular consensus of methodology of lengthening for...
Brachymetatarsia is a congenital osseous and soft tissue deformity of a ray(s) of the foot. Because there is no particular consensus of methodology of lengthening for brachymetatarsia, the authors introduce a comprehensive anatomic classification and a surgical guide to treatment of each classification type. This classification combines the number of the metatarsal(s) affected and the letter(s) indicating the type of brachymetatarsia deformity (A = axial deficiency of the metatarsal, B = bowing of the metatarsal, C = congruency of metatarsal phalangeal joint). This study reviewed of 300 brachymetatarsals in 166 patients. Fifty of the 166 (30%) patients had bilateral brachymetatarsia. Of the 300 metatarsals with brachymetatarsia, 64 (21%) were first metatarsals, 22 (7%) were second metatarsals, 28 (9%) were third metatarsals, 12 (4%) were fifth metatarsals, and 174 (58%) were fourth metatarsals. Classification types that were found was a total of 165 (55%) type A, a total of 6 (2%) type B, a total of 72 (24%) type AB, a total of 39 (13%) type AC, and a total of 18 (6%) type ABC. A total of 16 (10%) male and 150 (90%) female patients were evaluated. The mean preoperative amount of shortening of the metatarsal was 15 mm (range, 4-20 mm), as determined by the preoperative metatarsal parabola deficiency, equating to 30% of the preoperative metatarsal length. Brachymetatarsia is a complex congenital deformity which until now has not been critically analyzed. This study outlines a comprehensive brachymetatarsia classification system which provides an accurate diagnosis of the deformity and offers a surgical treatment algorithm.
Topics: Humans; Male; Female; Osteogenesis, Distraction; Foot Deformities, Congenital; Metatarsal Bones; Metatarsus; Lower Extremity
PubMed: 35817705
DOI: 10.1053/j.jfas.2022.06.002 -
Pediatric Clinics of North America Feb 2020Evaluation of the pediatric musculoskeletal system may be difficult because of differences between children and adults. As children mature, their physical structure... (Review)
Review
Evaluation of the pediatric musculoskeletal system may be difficult because of differences between children and adults. As children mature, their physical structure approaches that of an adult. However, in the meantime, varying stages of ossification and developmental timelines may confuse the average clinician. Congenital abnormalities of the upper extremity are extremely numerous, but here we present 10 that often are seen in clinical practice. The article discusses the diagnosis, evaluation, treatment, and outcomes of each condition.
Topics: Child; Hand Deformities, Congenital; Humans
PubMed: 31779839
DOI: 10.1016/j.pcl.2019.09.011 -
Clinics in Plastic Surgery Apr 2021Indications for lower extremity reconstruction in children are unique because most result from congenital conditions (eg, constriction ring, lymphedema, syndactyly,... (Review)
Review
Indications for lower extremity reconstruction in children are unique because most result from congenital conditions (eg, constriction ring, lymphedema, syndactyly, nevi, vascular anomalies). Like adults, pediatric patients also suffer from effects following extirpation and trauma. Principles of reconstruction are based on the condition and type of deformity. The pediatric population typically has fewer comorbidities than adults that can negatively affect outcomes (eg, diabetes, peripheral vascular disease), although children can be less compliant with postoperative care. Growth, development, appearance, and postoperative compliance are variables that especially influence operative management of children.
Topics: Adolescent; Child; Humans; Infant; Leg Injuries; Lower Extremity; Lower Extremity Deformities, Congenital; Lymphedema; Nevus; Postoperative Complications; Plastic Surgery Procedures; Syndactyly; Toes
PubMed: 33674055
DOI: 10.1016/j.cps.2020.12.010 -
Advances in Clinical and Experimental... Apr 2020The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and... (Review)
Review
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or aplasia, is a congenital disease manifested by the aplasia of the uterus and the upper 2/3 of the vagina; its incidence is 1 in 4,000-5,000 female live births. We can distinguish 2 types of the MRKH syndrome: type I, which is characterized by an isolated absence of 2/3 of the vagina and uterus; and type II or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies), which is also associated with other symptoms. The treatment of the MRKH syndrome patients aims at creating a neovagina and enabling sexual intercourse. Non-surgical techniques are the first-choice methods, and more than 90% of patients notice an anatomical and functional improvement if they are well-prepared emotionally. If non-surgical treatment does not bring about the expected results, a surgical procedure remains an option. The surgical method is mainly determined by the surgeon's experience. There are a few types of operations, though none of them seems superior to others. The next challenge is to provide these patients with a chance to become parents. Nowadays, a uterine transplant, a surrogate or adoption are the available solutions. An interdisciplinary approach is required, and the treatment should consist of medical and psychological support. This review presents the current knowledge about the MRKH syndrome with regard to the current methods of non-surgical and surgical treatment as well as a summary of the associated psychological problems.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Female; Humans; Mullerian Ducts; Uterus; Vagina
PubMed: 32348039
DOI: 10.17219/acem/118850 -
American Journal of Obstetrics and... Dec 2019
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Amniocentesis; Amniotic Band Syndrome; Anal Canal; Carpal Bones; Chorionic Villi Sampling; Congenital Bone Marrow Failure Syndromes; Diagnosis, Differential; Esophagus; Fanconi Anemia; Female; Genetic Testing; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Kidney; Limb Deformities, Congenital; Lower Extremity Deformities, Congenital; Microarray Analysis; Pregnancy; Radius; Spine; Thrombocytopenia; Thumb; Trachea; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Ultrasonography, Prenatal; Upper Extremity Deformities, Congenital; Valproic Acid
PubMed: 31787159
DOI: 10.1016/j.ajog.2019.09.024 -
Journal Francais D'ophtalmologie Sep 2019Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc... (Review)
Review
Congenital abnormalities of the optic disc are not uncommon in clinical practice and should be recognized. Size abnormalities of the optic disc include optic disc aplasia, hypoplasia, megalopapilla, and optic disc cupping in prematurity. Among congenital excavations of the optic disc head, morning glory disc anomaly and optic disc pit can be complicated by serous retinal detachment; the papillorenal disc is an association of bilateral optic disc cupping and renal hypoplasia which should be ruled out; optic disc coloboma is caused by an abnormal closure of the embryonic fissure and can be complicated by choroidal neovascularization and retinal detachment. Other abnormalities that will be discussed are congenital tilted disc syndrome, duplicity of the optic disc head, congenital pigmentation of the optic disc head and myelinated retinal nerve fibers. All of these abnormalities can be associated with syndromes and neurological diseases, as well as other potentially blinding ophthalmological defects which can be secondarily complicated by amblyopia, strabismus and nystagmus. Thus, they should be recognized in order to plan for appropriate follow-up.
Topics: Coloboma; Eye Abnormalities; Humans; Optic Disk; Optic Nerve
PubMed: 30935696
DOI: 10.1016/j.jfo.2018.09.011 -
Nederlands Tijdschrift Voor Geneeskunde Feb 2020This case discussion on urethral coitus in Mayer-Rokitansky-Küster-Hauser syndrome shows that this rare syndrome can have major physical and psychological consequences....
This case discussion on urethral coitus in Mayer-Rokitansky-Küster-Hauser syndrome shows that this rare syndrome can have major physical and psychological consequences. Further consideration shows that a lack of common sense and a lack of action concerning sexual history-taking and careful vulvar examination is the reason that an iatrogenic sexual problem arose in this case. This was not the result of the initial denial of a rare diagnosis. Both attention to these aspects during training and supervision are necessary, since other disorders and medical treatments can also have a negative impact on sexuality.
Topics: 46, XX Disorders of Sex Development; Coitus; Congenital Abnormalities; Female; Humans; Iatrogenic Disease; Mullerian Ducts; Sexual Dysfunctions, Psychological; Urethral Diseases; Vulva
PubMed: 32392001
DOI: No ID Found -
Endocrinology and Metabolism Clinics of... Sep 2019Hyperglycemia is common during pregnancy, involving multisystem adaptations. Pregnancy-induced metabolic changes increase insulin resistance. Pregnancy-induced insulin... (Review)
Review
Hyperglycemia is common during pregnancy, involving multisystem adaptations. Pregnancy-induced metabolic changes increase insulin resistance. Pregnancy-induced insulin resistance adds to preexisting insulin resistance. Preexisting pancreatic β-cell defect compromises the ability to enhance insulin secretion, leading to hyperglycemia. Women with type 2 DM have similar rates of major congenital malformations, stillbirth, and neonatal mortality, but an even higher risk of perinatal mortality. In utero type 2 DM exposure confers greater risk and reduces time to development of type 2 DM in offspring. Preconception care to improve metabolic control in women with type 2 diabetes is critical.
Topics: Congenital Abnormalities; Diabetes Mellitus, Type 2; Female; Glycated Hemoglobin; Humans; Preconception Care; Pregnancy; Pregnancy Outcome; Pregnancy in Diabetics; Prenatal Exposure Delayed Effects
PubMed: 31345520
DOI: 10.1016/j.ecl.2019.05.009 -
Cold Spring Harbor Molecular Case... Oct 2020Congenital anomalies are common, with 2%-3% of infants estimated to have at least one major congenital malformation and countless others with minor malformations of... (Review)
Review
Congenital anomalies are common, with 2%-3% of infants estimated to have at least one major congenital malformation and countless others with minor malformations of lesser cosmetic or medical importance. As congenital malformations are major drivers of morbidity and mortality, representing the leading cause of infant mortality in the United States, there is substantial interest in understanding the underlying etiologies-particularly if modifiable causes may be identified or pre- or postnatal treatments can be offered. Recent research has begun to reveal the spectrum of monogenic disorders that commonly result in birth defects, and newer approaches have revealed non-Mendelian genetic contributions including gene-environment interactions. Our experience suggests that increased efforts to sequence and analyze cases of perinatal death, as well as continued global collaboration, will be essential in understanding the genomic landscape of structural anomalies.
Topics: Congenital Abnormalities; Family Characteristics; Female; Humans; Infant; Pregnancy
PubMed: 32826208
DOI: 10.1101/mcs.a005504 -
Urologia Internationalis 2022The urachus is an embryologic remnant which is formed from the obliteration of the allantois. Urachal abnormalities are caused when defective obliteration of the urachus...
INTRODUCTION
The urachus is an embryologic remnant which is formed from the obliteration of the allantois. Urachal abnormalities are caused when defective obliteration of the urachus happens. They are an infrequent condition. Incidence is estimated to be between 5,000 and 8,000 live births. Its diagnosis and management remain a challenge due to the lack of an specific clinical picture and the controversy about the management.
OBJECTIVE
The objective of this study is to assess the clinical presentation, diagnosis, therapeutic management, and outcomes of urachal anomalies in our health area.
MATERIALS AND METHODS
We performed a retrospective review of all cases of urachal anomalies recorded Tenerife (southern health area), La Gomera, and El Hierro Islands during a 5 year period.
RESULTS
Twenty-three cases of urachal pathology were included. The mean age of presentation was 32 years old. 73.9% were male. 65% were diagnosed in adults. In 30.3% of the cases, it was a casual finding. Symptoms included fever, umbilical exudate, hematuria, abdominal pain, and umbilical granuloma. The main diagnostic tests were ultrasound and computed tomography scan. Treatments were selected conservative management (43.5%), selective resection, partial cystectomy, and radical cystectomy. All patients had a good evolution. However, 2 cases where benign tumors were suspected, clinically, had a final histology of cancer in the specimen.
CONCLUSIONS
Due to the lack of a specific clinical picture and undefined findings in image tools, diagnosis is difficult and it may be inaccurate. Despite more data are needed, our results suggest that the systematic excision of urachal lesions could result in safer outcomes since cases where a benign lesion is clinically suspected might result in malignant tumors.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Congenital Abnormalities; Female; Humans; Infant; Male; Middle Aged; Retrospective Studies; Treatment Outcome; Urachus; Young Adult
PubMed: 33957634
DOI: 10.1159/000515648