NDLI: Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

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Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

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Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Castori, Marco Morlino, Silvia Ritelli, Marco Brancati, Francesco De Bernardo, Carmelilia Colombi, Marina Grammatico, Paola
Description	Country affiliation: Italy Author Affiliation: Castori M ( Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.)
Abstract	Lateral meningocele syndrome (LMS) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. LMS has been observed in eleven patients with two instances of vertical transmission, and seven sporadic cases with an age at diagnosis ranging from 25 months to 33 years. We report on a further observation of LMS in a 55-year-old woman presenting with a long history of joint instability, chronic musculoskeletal pain, and iatrogenic bladder and anorectal dysfunction due to irreversible nerve damage after surgical excision of a meningeal cyst. Her clinical characteristics are compared with those of previously reported patients, as well as two further cases originally diagnosed with Hajdu-Cheney and Ehlers-Danlos syndromes, but displaying typical features of LMS.
File Format	HTM / HTML
ISSN	15524825
Issue Number	2
Volume Number	164A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2014-02-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Diagnosis Joint Instability Meningocele Musculoskeletal Pain Brain Pathology Delayed Diagnosis Diagnosis, Differential Female Humans Knee Joint Abnormalities Magnetic Resonance Imaging Middle Aged Phenotype Case Reports Journal Article Review
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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