P11.13: The prenatal diagnosis of sacral agenesis with fetal akinesia deformation sequence in the lower extremities

Objectives. To describe ultrasound and pathomorphological signs of amyoplasia in the fetus. Materials. Sporadic case of prenatal diagnosis on second trimester ultrasound examination is presented. Prenatal diagnosis is confirmed on pathomorphological and histological examinations. Results. The ultrasound signs were contractures of the upper and lower extremities, bilateral clubfoot, akinesia, extreme cervical spinal hyperextension. The diagnosis was established by pathomorphological and histological expertise. Histological examination of the muscle tissue of the rectus femoris muscle determined the residual muscle tissue infiltrated with fat and connective tissue. Conclusions. Amyoplasia, especially its severe subtypes, can be diagnosed prenatally. The ultrasound signs were contractures of the upper and lower extremities, bilateral clubfoot, akinesia, extreme cervical spinal hyperextension. Histological examination of muscle tissue in fetuses with signs of arthrogryposis will increase the frequency of diagnosis of amioplasia

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Sirenomelia with Potter syndrome: a case report and review of literature

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20195588 ◽

2019 ◽

Vol 9 (1) ◽

pp. 400

Author(s):

Amrita Singh ◽

Anupma Kumari

Keyword(s):

Congenital Anomaly ◽

Case Report ◽

Prenatal Diagnosis ◽

Lower Extremities ◽

Rare Condition ◽

Variable Degree ◽

Review Of Literature ◽

Rare Congenital Anomaly ◽

Mermaid Syndrome ◽

Vascular Steal

Sirenomelia or mermaid syndrome is a rare congenital anomaly characterized by variable degree of fusion of lower extremities. Awareness to this rare condition is important for prenatal diagnosis and prognosticating the fetus. The exact etiopathogenesis is still an area of research. Two pathogenic hypotheses are the vascular steal hypothesis and the defective blastogenesis hypothesis with exceptions reported in literature.

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Neurological Presentations, Imaging, and Associated Anomalies in 50 Patients With Sacral Agenesis

Neurosurgery ◽

10.1227/neu.0b013e3181eb500d ◽

2010 ◽

Vol 67 (4) ◽

pp. 894-900 ◽

Cited By ~ 18

Author(s):

Parisa Emami-Naeini ◽

Ziba Rahbar ◽

Farideh Nejat ◽

Abdolmohammad Kajbafzadeh ◽

Mostafa El Khashab

Keyword(s):

Urinary Incontinence ◽

Urinary Tract ◽

Imperforate Anus ◽

Neurological Disorders ◽

Recurrent Urinary Tract Infection ◽

Lower Extremities ◽

Neurological Manifestations ◽

Sacral Agenesis ◽

Multiple Organs ◽

Tract Infections

Abstract BACKGROUND: Sacral agenesis is an uncommon congenital disorder that involves multiple organs. OBJECTIVE: We studied neurological manifestations of the disease, common associated disorders, and their relation with extent of bony malformation. METHODS: We investigated neurological manifestations of 50 patients with sacral agenesis. Patients were evaluated for previous procedures, ambulation, limb abnormalities, vertebral alignment, recurrent urinary tract infection, urinary incontinence, dribbling, dimple, lower extremities weakness, myelomeningocele (MMC), and lipomyelomenangocele. RESULTS: Weakness of lower extremities was seen in 37 (74%) patients. Concurrent weakness of proximal and distal muscles of the lower limb was statistically associated with a type of bony aplasia (P = .001). However, paraplegia was seen in only 2 of 44 children over the age of 1, and the rest could walk. Myelodysplastic syndromes were seen in 21 patients. Sacral agenesis is diagnosed in children with concomitant MMC at younger ages and reveals more severe symptoms. Progression of neurological disorders was seen in 19 patients, in all of whom MRI showed tethering of the spinal cord. Urinary disorders including diurnal urinary incontinence (in 30 of 35 children over age 4) and recurrent urinary tract infections (in 37) were also common. Imperforate anus was seen in 11 patients. Twelve children over age 4 reported fecal incontinence, a problem that had statistically significant association with imperforate anus (P = .013). CONCLUSION: Different disorders can concurrently affect patients with sacral agenesis that may have profound impressions on patients and their families. Early diagnosis, thorough evaluation, and proper intervention are of utmost importance as they can prevent or lessen future complications.

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A new strategy for prenatal diagnosis in a sporadic haemophilia B family

Haemophilia ◽

10.1046/j.1365-2516.2001.00514.x ◽

2001 ◽

Vol 7 (4) ◽

pp. 416-418 ◽

Cited By ~ 7

Author(s):

M. Acquila ◽

F. Bottini ◽

A. Valetto ◽

D. Caprino ◽

P. G. Mori ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Haemophilia B ◽

New Strategy

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Lower Extremities Workbook Excerpts: Principles of Assessment: Excerpts from Guides Sixth Impairment Training Workbook-Lower Extremities

Guides Newsletter ◽

10.1001/amaguidesnewsletters.2009.sepoct02 ◽

2009 ◽

Vol 14 (5) ◽

pp. 8-9

Keyword(s):

Lower Extremities

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Peripheral Nerve and Brachial Plexus Impairment, AMA Guides, Sixth Edition

Guides Newsletter ◽

10.1001/amaguidesnewsletters.2017.marapr01 ◽

2017 ◽

Vol 22 (2) ◽

pp. 3-5

Author(s):

James B. Talmage ◽

Jay Blaisdell

Keyword(s):

Peripheral Nerve ◽

Brachial Plexus ◽

Complex Regional Pain Syndrome ◽

Lower Extremities ◽

Pain Syndrome ◽

Upper Extremities ◽

Motor Deficits ◽

Type I ◽

Sixth Edition ◽

Nerve Entrapments

Abstract Physicians use a variety of methodologies within the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides), Sixth Edition, to rate nerve injuries depending on the type of injury and location of the nerve. Traumatic injuries that cause impairment to the peripheral or brachial plexus nerves are rated using Section 15.4e, Peripheral Nerve and Brachial Plexus Impairment, for upper extremities and Section 16.4c, Peripheral Nerve Rating Process, for lower extremities. Verifiable nerve lesions that incite the symptoms of complex regional pain syndrome, type II (similar to the former concept of causalgia), also are rated in these sections. Nerve entrapments, which are not isolated traumatic events, are rated using the methodology in Section 15.4f, Entrapment Neuropathy. Type I complex regional pain syndrome is rated using Section 15.5, Complex Regional Pain Syndrome for upper extremities or Section 16.5, Complex Regional Pain Syndrome for lower extremities. The method for grading the sensory and motor deficits is analogous to the method described in previous editions of AMA Guides. Rating the permanent impairment of the peripheral nerves or brachial plexus is similar to the methodology used in the diagnosis-based impairment scheme with the exceptions that the physical examination grade modifier is never used to adjust the default rating and the names of individual nerves or plexus trunks, as opposed to the names of diagnoses, appear in the far left column of the rating grids.

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