Hunt NC, Vujanić GM. Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. Am J Med Genet. 1998;75(3):326-9. Hunt, N. C., & Vujanić, G. M. (1998). Fibrochondrogenesis in a 17-week fetus: a case expanding the phenotype. [unboundmedicine.com]

All other cases were sporadic andin non-consanguineous families [Eteson et al., 1984;Whitley et al., 1984; Bankier et al., 1991; Martinez-Fraset al., 1996; Hunt and Vujanic, 1998]. [docslide.com.br]

Hunt NC, Vujanic GM. Fibrochondrogenesis in a 17 week fetus: a case expanding the phenotype. Am J Med Genet 1998; 75: 326–329. CrossRef PubMed Google Scholar 13. Stanecu V, Stanescu R, Pathogenic mechanisms in osteochondrodysplasias. [dx.doi.org]

Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991). [doi.org]

[…] which form cartilage); and flared, widened long bone metaphyses (the portion of bone that grows during childhood).Other prominent features include dwarfism, shortened ribs that have a concave appearance, micrognathism (severely underdeveloped jaw), macrocephaly [en.wikipedia.org]

Other prominent features include dwarfism, shortened ribs that have a concave appearance, micrognathism (severely underdeveloped jaw ), macrocephaly (enlarged head), thoracic hypoplasia (underdeveloped chest), enlarged stomach, (flattened spine ), and [wiki30.com]

[…] body height Small stature [ more ] 0004322 Wide anterior fontanel Wider-than-typical soft spot of skull 0000260 30%-79% of people have these symptoms Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 [rarediseases.info.nih.gov]

Small palpebral fissures with anti-mongoloid obliquity, low-set abnormally formed ears, small mouth, cleft palate, and hypertelorism are seen. [ncbi.nlm.nih.gov]

The carriers of these mutations display ocular defects with normal hearing. [ncbi.nlm.nih.gov]

face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short neck Decreased length of neck 0000470 Short ribs 0000773 Short stature Decreased body height Small stature [ more ] 0004322 Wide anterior fontanel Wider-than-typical [rarediseases.info.nih.gov]

The skull is relatively large with large anterior fontanelle and hypoplastic facial bones. The clavicles are long and thin and the scapulae are small. Ribs are short and wide, cupped both anteriorly and posteriorly. [ncbi.nlm.nih.gov]

neck Decreased length of neck 0000470 Short ribs 0000773 Short stature Decreased body height Small stature [ more ] 0004322 Wide anterior fontanel Wider-than-typical soft spot of skull 0000260 30%-79% of people have these symptoms Anteverted nares Nasal [rarediseases.info.nih.gov]

Telephone: 713‐348‐6385; Fax: 713‐348‐5877 Search for more papers by this author First published: 02 January 2009 Cited by: 32 Abstract Human embryonic stem cells (hESCs) are an exciting cell source for fibrocartilage engineering. [dx.doi.org]

Aside from the excitement of performing novel research, I enjoy mentoring at all levels of education (from high school to post-doctoral). [sites.ophth.wisc.edu]