Presentation
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
A 1-day-old male neonate weighing 2.8 kg presented to the emergency room of our institution with imperforate anus and absent left lower limb. The baby was a product of consanguineous marriage. [apspjcaserep.com]
In this case report, we present our findings and compare these with similar cases previously reported. [dovepress.com]
Entire Body System
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Pathologist
All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. [books.google.com]
[PUBMED Abstract] Perlman EJ, Hawkins EP: Pediatric germ cell tumors: protocol update for pathologists. Pediatr Dev Pathol 1 (4): 328-35, 1998 Jul-Aug. [cancer.gov]
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Rigor
By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. [books.google.com]
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Trisomy 21
الصفحة 194 - Carey, JC: Health supervision and anticipatory guidance for children with genetic disorders (including specific recommendations for trisomy 21, trisomy 18 and neurofibromatosis I). Pediatr. Clin. North Am., 39:25, 1992. [books.google.com]
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Splenectomy
Hone and expand your surgical skills by watching videos of minimally invasive procedures for recto urethral fistula, biliary atresia, laparoscopic splenectomy, uterine horn, and more. [books.google.com]
Jaw & Teeth
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Gingival Fibroma
الصفحة 376 - Minor features Multiple randomly distributed pits in dental enamel Hamartomatous rectal polyps Bone cysts Cerebral white matter radial migration lines Gingival fibromas Non-renal hamartoma Retinal achromic patch 'Confetti... [books.google.com]
Musculoskeletal
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Back Pain
pain and psychosocial interactions, biomechanics, and more. [books.google.com]
Skin
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Shagreen Patch
الصفحة 376 - Major features Facial angiofibromas or forehead plaque Nontraumatic ungual or periungual fibroma Hypomelanotic macules (three or more) Shagreen patch (connective tissue nevus) Multiple retinal nodular hamartomas Cortical tuber... [books.google.com]
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Facial Angiofibroma
الصفحة 376 - Major features Facial angiofibromas or forehead plaque Nontraumatic ungual or periungual fibroma Hypomelanotic macules (three or more) Shagreen patch (connective tissue nevus) Multiple retinal nodular hamartomas Cortical tuber... [books.google.com]
Workup
A provisional diagnosis of sirenomelia was made and further workup and plan for surgery was made. The parents agreed for workup and left to come prepared for admission but they did not come for admission and also did not respond to repeated calls. [ijcasereportsandimages.com]
Workup An accurate radiologic evaluation is essential. Standard posteroanterior (PA) and lateral views of the entire spine are used for the initial evaluation. [emedicine.medscape.com]
Other Test Results
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Cortical Tubers
الصفحة 376 - Major features Facial angiofibromas or forehead plaque Nontraumatic ungual or periungual fibroma Hypomelanotic macules (three or more) Shagreen patch (connective tissue nevus) Multiple retinal nodular hamartomas Cortical tuber... [books.google.com]
Colonoscopy
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Polyps
الصفحة 376 - Minor features Multiple randomly distributed pits in dental enamel Hamartomatous rectal polyps Bone cysts Cerebral white matter radial migration lines Gingival fibromas Non-renal hamartoma Retinal achromic patch 'Confetti... [books.google.com]
Treatment
Focus on evidence-based treatments and outcomes to apply today’s best practices. [books.google.com]
Surgery Surgery is an essential component of treatment. Specific treatments will be discussed for each tumor type. [cancer.gov]
Operative treatment Surgery is the most effective treatment for severe or progressive congenital scoliosis. Many different forms of operative treatment exist for congenital scoliosis, and all have their place. [emedicine.medscape.com]
Prognosis
In addition, in cases where the natural history indicates a poor prognosis, orthotic treatment is contraindicated. [emedicine.medscape.com]
Clinical signs incidence: 1 : 30 000 – 70 000, more frequent in females the prognosis in a fetus correlates inversely with the tumor size and rate of tumor growth, the prognosis is worsened with the presence of hydrops fetalis and placental edema hydrops [atlases.muni.cz]
Most fetal sacrococcygeal teratomas are not likely to be malignant, and the prognosis tends to be good after resection. Updated: March 2014 [chop.edu]
The prognosis is usually poor with survival depending on the nature of the visceral anomalies. [omicsonline.org]
Prognosis [ edit ] There are four levels (or "types") of malformation. The least severe indicates partial deformation (unilateral) of the sacrum. The second level indicates a bilateral (uniform) deformation. [en.wikipedia.org]
Etiology
The etiology is unknown, and the outcome for the affected fetus is rather uncertain. [dovepress.com]
Also we could not further investigate to clinch the etiology due to non-cooperation of the patient. This rare abnormality is usually universally fatal but this boy was found to be healthy at fifteen years of age. [ijcasereportsandimages.com]
[…] concerning dermatopathology and pathology Atlas of fetal pathology Congenital malformations Physiological developement of an embryo and fetus, growth and changes of the external shape Congenital malformations and congenital anomalies Basic terminology Etiology [atlases.muni.cz]
Moreover, it appears that both multi-anomaly-CRS and VACTERL anomalies may have similar etiological factors, a point that can be debated as more of such cases are reported. REFERENCES 1. Shah DS, Tomar G, Preetkiran. Sirenomelia. [apspjcaserep.com]
SOJ Gynecol Obstet Womens Health 3(1): 1-4 DOI: Sirenomelia also called as Mermaid Syndrome, is a rare congenital malformation of uncertain etiology. [symbiosisonlinepublishing.com]
Epidemiology
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Although they appear clinicallydistinct, some epidemiological and experimental studies sug-gest a common pathogenetic mechanism. We report on thereproductive history of a 28-year-old obese, diabetic motherwho had three pregnancies. [docslide.com.br]
The above concepts have been derived from epidemiological observations(2,6) or by extrapolation of studies conducted on animals e.g., adriamycin induced VACTERL association in rats(7), and at present is largely hypothetical. [indianpediatrics.net]
[PUBMED Abstract] Schneider DT, Calaminus G, Koch S, et al.: Epidemiologic analysis of 1,442 children and adolescents registered in the German germ cell tumor protocols. Pediatr Blood Cancer 42 (2): 169-75, 2004. [cancer.gov]
Prevention
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Four patients with low lying conus had preemptive spinal cord exploration for release of tethering in order to prevent neurological deterioration. [karger.com]
It is easier to prevent a severe spinal deformity than to correct one. [emedicine.medscape.com]
It is also important to prevent infection and additional trauma to the exposed tissues. [7] [8] Additional surgeries may be required to manage other problems in the feet, hips, or spine. [physio-pedia.com]
However, an author would be permitted to write a sentence such as “NCI’s PDQ cancer information summary about breast cancer prevention states the risks succinctly: [include excerpt from the summary].” [cancer.gov]