パターソン・デーヴィッド症候群。偽性妖精症
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/17 15:11:17」(JST)
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| Patterson syndrome |
| Classification and external resources |
| OMIM |
169170 |
Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue Syndrome (also known as Leprechaunism).
It is named for Dr. Joseph Hanan Patterson.[1] It was described by Patterson and Watkins in 1962.[2]
The pathogenesis and etiology of the Patterson syndrome was unknown until 1981.[3]
Characteristics
Patterson syndrome is characterized by the patient's having an unusual facial look, similar to that caused by Leprechaunism. It primarily affects the connective tissue and the neuroendocrine system, giving rise to bronzed hyperpigmentation, cutis laxa of the hands and feet, bodily disproportion, severe mental retardation, and major bony deformities. Radiographs reveal a characteristic generalised skeletal dysplasia.
It comprises endocrine abnormality, hyperadrenocorticism, cushingoid features, and diabetes mellitus. One other case has shown premature adrenarche.
References
- ^ Zach Samson (July 1, 2006). "Dr. Patterson, influential past president of AAP Georgia Chapter". AAP News 27 (7): 39. Retrieved 2008-03-24.
- ^ PATTERSON JH, WATKINS WL (1962). "Leprechaunism in a male infant". J. Pediatr. 60 (5): 730–9. doi:10.1016/S0022-3476(62)80100-0. PMID 14484402.
- ^ David TJ, Webb BW, Gordon IR (1981). "The Patterson syndrome, leprechaunism, and pseudoleprechaunism". J. Med. Genet. 18 (4): 294–8. doi:10.1136/jmg.18.4.294. PMC 1048735. PMID 7277424.
English Journal
- The Patterson syndrome, leprechaunism, and pseudoleprechaunism.
- David TJ, Webb BW, Gordon IR.
- Journal of medical genetics.J Med Genet.1981 Aug;18(4):294-8.
- A bizarre syndrome has hitherto masqueraded as leprechaunism, and although it is a quite different disorder it has been used as the prototype of leprechaunism in some birth defects atlases. It is proposed that this condition is designated the Patterson syndrome and details of a second case are repor
- PMID 7277424
Related Links
- Patterson pseudoleprechaunism syndrome information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Patterson pseudoleprechaunism syndrome ...
- Abstract A bizarre syndrome has hitherto masqueraded as leprechaunism, and although it is a quite different disorder it has been used as the prototype of leprechaunism in some birth defects atlases. It is proposed that this condition ...
Related Pictures
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- 英
- Patterson-David syndrome
- 同
- 偽性妖精症 pseudoleprechaunism