Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The primary joint hypermobility syndrome (pJH) is an overlap disorder of connective-tissue dysplasias, which incorporates features seen in the Marfan syndromes (MFS), Ehlers-Danlos syndromes (EDS), and osteogenesis imperfecta. Patients with pJH usually present arthralgia, back pain, soft-tissue lesions, recurrent joint dislocation, or subluxation. Extraarticular features may include, e. g., striae cutis, keratoconus, easy bruising, mitral valve prolapse, aortic incompetence, aneurysms, pneumothorax, hernia, urinary incontinence, and pelvic floor prolapse. Due to the high frequency of critical dissection and rupture, the early recognition of rare life-threatening complications such as dilatation of the aortic root and aneurysms is important. Therefore, patients (and their family members) with pJH should also be examined for life-threatening features seen in MFS and EDS.
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PMID:[Concomitant diseases in primary joint hypermobility syndrome]. 1549 74

A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies like hypoplasia of the right mandible, narrow nasal bridge with broad tip and unilateral notching of the right ala nasi, concomitant squint and low set ears. She also had generalized hypopigmented, atrophic linear macules, multiple papillomas, fat herniations, umbilical hernia, hypoplastic nails, cicatricial alopecia, mild mental retardation, 'lobster-claw' hand and osteopathia striata of long bones, pointing to a diagnosis of Goltz syndrome. The unusual features noted were absence of the left first rib and aortic regurgitation.
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PMID:Focal dermal hypoplasia (Goltz syndrome). 1639 41