| Patterson syndrome | |
|---|---|
| Other names | Pseudoleprechaunism syndrome, Patterson type |
| Named after | Joseph Hanan Patterson |
Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue syndrome (also known as leprechaunism).[citation needed]
It is named for Dr. Joseph Hanan Patterson.[1] It was described by Patterson and Watkins in 1962.[2] The pathogenesis and cause of the Patterson syndrome was unknown until 1981.[3]
Signs and symptoms
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, intellectual disability, and major bony deformities. Radiographs reveal a characteristic generalised skeletal dysplasia.[citation needed]
It comprises endocrine abnormality, hyperadrenocorticism, cushingoid features, and diabetes mellitus. One other case has shown premature adrenarche.[citation needed]
Cause
Diagnosis
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.
External links
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
This page was last edited on 5 February 2024, at 00:27