Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seckel syndrome is an autosomal recessive, primordial dwarfism. The clinical symptoms and signs include severe intrauterine and postnatal growth retardation, nanocephaly, proportional dwarfism, bird-like faces, beak-like triangular nose, and mental retardation. We report a successful anesthetic management including endotracheal intubation with the GlideScope(R) video laryngoscope in an 18-year old man with Seckel syndrome for curettage of chronic osteomyelitis of pelvic bone.
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PMID:An anesthetic experience in a patient with Seckel syndrome: A case report. 3062 23

Seckel syndrome, also called bird-headed dwarfism, is an extremely rare, inherited, autosomal recessive disorder. The patients with Seckel syndrome are characterized by growth retardation, microcephaly with mental retardation, proportional dwarfism, bird like faces, and beak-like triangular nose. A literature review reveals that they have multiple anesthetic problems such as difficult airway management, difficult venous cannulation and concomitant medical diseases. We describe our experience in anesthetic management of a 21-month-old male patient with Seckel syndrome associated with pneumonia who underwent orchiopexy for bilateral cryptochidism.
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PMID:Anesthetic experience of a pediatric patient with Seckel syndrome associated with pneumonia : A case report. 3062 18

Seckel syndrome-1 or "bird-headed dwarfism", Online Mendelian Inheritance in Man number 210600, is a rare genetic disease with an autosomal recessive transmission. We report a female child of 56 months diagnosed with SCKL1 at the Pediatric department of the University Hospital Center Sourou Sanou, Burkina Faso. She showed the typical features including facial dysmorphism, dwarfism, microcephalus and mental retardation. Ophthalmic and dental anomaly and extremities were associated. Without a codified etiological treatment, a psychotherapist support, a genetic counseling, a regular pediatric follow-up, a quarterly odontostomatological and ophthalmological follow- up have been recommended.
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PMID:The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso). 3230 69


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