| First Author | Kamath BM | Year | 2002 |
| Journal | Am J Med Genet | Volume | 112 |
| Issue | 2 | Pages | 171-5 |
| PubMed ID | 12244551 | Mgi Jnum | J:79433 |
| Mgi Id | MGI:2388218 | Doi | 10.1002/ajmg.10628 |
| Citation | Kamath BM, et al. (2002) Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome. Am J Med Genet 112(2):171-5 |
| abstractText | Alagille syndrome (AGS; OMIM 118450) is a complex dominantly inherited multisystem disorder involving the liver, heart, eyes, facies, skeleton, and other systems. Criteria for the clinical diagnosis have been established as the presence of bile duct paucity on liver biopsy in association with three of five major clinical findings (cholestasis, butterfly vertebrae, posterior embryotoxon, congenital heart disease, and facial features). Jagged1 has been identified as the AGS disease gene. Jagged1 is a large gene, with no mutational hot spots, making molecular testing difficult at this time. Other clinical features would prove helpful in establishing the diagnosis in the absence of molecular confirmation. Supernumerary digital flexion creases have been identified in 16/46 (35%) of AGS probands examined through the Alagille Syndrome Diagnostic Center at the Children's Hospital of Philadelphia. Although digital abnormalities have been noted in AGS in the past, including short distal phalanges and fifth finger clinodactyly, digital crease abnormalities have never before been reported. Supernumerary digital creases have been reported in less than 1% of the general population. The presence of extra and missing digital creases in individuals with normal joint anatomy, their occurrence in several syndromes, and mouse in situ expression studies indicate that genetic factors contribute to digital crease formation. However, these factors are poorly understood. Hypotheses regarding the origin of flexion creases are discussed. The identification of supernumerary digital creases in one-third of AGS probands provides another diagnostic aid and allows for speculation of the role of Jagged1 in the molecular development of digital crease patterns. Copyright 2002 Wiley-Liss, Inc. |
