Patterson pseudoleprechaunism syndrome
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Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue Syndrome (also known as Leprechaunism). Described by Patterson and Watkins, 1962.
It 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.
The pathogenesis and etiology of the Patterson syndrome was unknown, in 1981.
[edit] References
- Journal of Medical Genetics, 1981, Vol 18, 294-298 PMID 7277424
- Patterson, J. H.; Watkins, W. L., "Leprechaunism in a male infant." J. Pediat. 60: 730-739, 1962. PMID 14484402
- Mendelian Inheritance in Man (OMIM) 169170