Marfanoid
Appearance
Marfanoid (or Marfanoid habitus) is a constellation of symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that exceeds the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
Associated conditions include:
- Multiple endocrine neoplasia type 2B[1][2]
- Homocystinuria[3]
- Spontaneous pneumothorax
- Ehlers-Danlos syndrome[4]
- Possibly Asperger syndrome [5]
References
- ^ Prabhu M, Khouzam RN, Insel J (November 2004). "Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report". South. Med. J. 97 (11): 1130–2. doi:10.1097/01.SMJ.0000140873.29381.12. PMID 15586612.
- ^ Wray CJ, Rich TA, Waguespack SG, Lee JE, Perrier ND, Evans DB (January 2008). "Failure to recognize multiple endocrine neoplasia 2B: more common than we think?". Ann. Surg. Oncol. 15 (1): 293–301. doi:10.1245/s10434-007-9665-4. PMID 17963006.
- ^ Pagon, RA.; Bird, TC.; Dolan, CR.; Stephens, K.; Picker, JD.; Levy, HL. (1993). "Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency". PMID 20301697.
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(help) - ^ Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. 2000 Feb 2 [Updated 2013 Jan 24]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1462/
- ^ "Asperger's syndrome and ligamentous laxity".