Spondylocarpotarsal synostosis syndrome is a recently delineated autosomal recessive condition comprising short stature with short trunk, failure of normal spine segmentation resulting in block vertebrae and fusion of posterior elements, carpal and/or tarsal coalition, scoliosis, lordosis, pes planu
Nonpenetrance in FGFR3-associated coronal synostosis syndrome
β Scribed by Robin, Nathaniel H.; Scott, Jennifer A.; Cohen, Alan R.; Goldstein, Jeffrey A.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 9 KB
- Volume
- 80
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19981116)80:3<296::aid-ajmg25>3.0.co;2-6
No coin nor oath required. For personal study only.
β¦ Synopsis
Fig. 1. Front (A) and profile (B) of the phenotypically normal individual with the FGFR3 Pro250Arg mutation.
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The Antley-Bixler syndrome (ABS) is a rare syndrome with synostosis of cranial sutures and elbow joints as minimal diagnostic criteria. The inheritance has been suggested to be autosomal recessive based on two families with sib recurrence with both sexes being affected, and two cases born to consang
Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20 unrelated families [Muenke et al. (1997): Am J Hum Genet 60:555-564]. The discovery of this apparently common mutation has resulted in the d
We have studied an infant with cloverleaf skull, proptosis, radioulnar synostosis and broad thumbs and great toes diagnosed as Pfeiffer syndrome type 2. However, there were many overlapping findings with Antley-Bixler syndrome. The patient was found to have a G to T mutation in codon 290 exon 7 of t
Fig. . The radiocontrast study obtained via the umbilical opening demonstrates the deformed urinary bladder, vesicoureteroreflux, the posterior urethra with normal calibration, and the atresia in the anterior urethra with cystic dilation behind.