Changes in the patients facial configuration and body could be attributed to age and familial history (i.e., the patient shows signs of arthritis and hypertension). Still present were the low hairline, broad tip of the nose, short nasal labial distance, depressed columella, thin lips, and posteriorly positioned ears, as well as short stature and mild to moderate retardation. Recent research
In a study published in 2012 in the Journal of Pediatric Endocrinology, a group of scientists reported the long-term effects of a patient diagnosed with FHS undergoing growth hormone therapy from the age of 3.5 years to 9 years old. While the GH seemed to work initially, the patients growth after the first couple years slowed significantly and the patient reached a stable height far below the target or standard height. The results on GH therapy remain inconclusive.Recent research mostly centers around the search and confirmation of the gene responsible for FHS. As discussed in the mechanisms section, though the mutation of SRCAP is a widely accepted indicator of a patient diagnosed with FHS, it is not the cause in every case. References
External links
OMIM entry on Floating–Harbor syndrome and SRCAP
GeneReview/UW/NCBI/NIH entry on Floating–Harbor syndrome
Patients who have recurrent intra-articular bodies or in whom the entire synovial lining is metaplastic require total synovectomy. References
Further reading
FletcherCDM, UnniKK, MertensF, editors. Pathology and genetics of tumours of soft tissue and bone. World Health Organization classification of tumours. Lyon: IARC Press, 2002. Bianchi S, Martinoli C (July 1999). "Detection of loose bodies in joints". Radiol. Clin. North Am. 37 (4): 679–90. doi:10.1016/S0033-8389(05)70123-8. PMID 10442075. Coles MJ, Tara HH (January 1997). "Synovial chondromatosis: a case study and brief review". Am. J. Orthop. 26 (1): 37–40. PMID 9021034. Crotty JM, Monu JU, Pope TL (March 1996). "Synovial osteochondromatosis". Radiol. Clin. North Am. 34 (2): 327–42, xi. PMID 8633119. Maurice H, Crone M, Watt I (1 November 1988). "Synovial chondromatosis". J Bone Joint Surg Br. 70 (5): 807–11. doi:10.1302/0301-620X.70B5.3192585. PMID 3192585. Milgram JW, Gilden JJ, Gilula LA (January 1996). "Multiple loose bodies: formation, revascularization, and resorption. A 29-year followup study". Clin. Orthop. Relat. Res. (322): 152–7. doi:10.1097/00003086-199601000-00019. PMID 8542691. S2CID 25265519. == External links ==