Kabuki syndrome and cholestatic Sample Clauses

Kabuki syndrome and cholestatic liver disease 4.1.1. Introduction Kabuki syndrome (OMIM#147920) (KS) is a congenital syndrome with typical facial characteristics, multi systemic involvement including cholestatic liver disease and mental retardation. The incidence is 1/32,000 with an equal sex ratio. It was first described in 1981 in 10 patients from Japan (Xxxxxx et al. 1981, Xxxxxxx et al. 1981). The name of the syndrome originates from the facial similarities of affected individuals with the Japanese Kabuki theatre masks (Figure 11). 4.1.2. Clinical features of KS 4.1.2.1. FACIAL AND DENTAL CHARACTERISTICS Ocular, auricular and ectodermal abnormalities have been described including lower palpebral eversion, coloboma of the iris, epicanthus and long palpebral fissure, ptosis and strabismus, arched eyebrows, and recurrent eye infections (most frequently associated with lacrimal duct anomalies) (Xxxxxxx et al. 1988, Xxxxxx et al. 1992, Schrander-Stumpel et al. 1994, Xxxxx-Xxxxx et al. 1995, Xxxxxx et al. 1995). Prominent or malformed ears have been reported along with depressed nasal tip, and micrognathia with associated anaesthetic risks (Xxxxxx et al. 2004, Xxxxxx et al. 2005, Xxxxxxx and Xxxxxx 2007). Ectodermal abnormalities include low posterior hairline, receding anterior hairline and sparse frontal scalp hair. On microscopy, twisting of hair shafts, irregularity of hair diameter, and trichorrhexis nodosa have been reported (Xxxxx-Xxxxx et al. 2011). A high arched or cleft palate, abnormal dentition and widely spaced teeth have also been reported (Xxxxxx et al. 1999, Xxxxxxx et al. 2001, Xxxx et al. 2006, xxx Xxxxxx et al. 2006).
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