Lower lip pits and anorectal anomalies in Kabuki syndrome

Abstract

We report on a Brazilian girl with Kabuki syndrome (KS) and lower lip pits and anorectal anomalies. To our knowledge, four patients with KS were described as having anorectal anomalies [Matsumura et al., 1992: J Ped Surg 27:1600-1602]. Lower lip pits were observed only in a KS patient described by Franceschini et al. [1993: Am J Med Genet 47:423-425].

Kabuki syndrome: a review

“…Burke et al was the first group to suggest that KS is an underdiagnosed condition in the cleft lip/palate population (11). Lip pits have also been described in several patients with KS (7, 20, 35) and will be discussed further under the section entitled Differential diganosis .…”

“…Because all of the initial reports originated from Japan, it was thought that this condition was much more common in the Japanese population. However, since 1981, there have been increasing reports of KS in a wide variety of ethnic groups, including patients of Northern European, Brazilian, Filipino, Vietnamese, Arab, East Indian, Chinese, Mexican, and African descent (4)(5)(6)(7)(8)(9)(10)(11)(12). Until recently, this condition was almost certainly underdiagnosed outside of the Japanese population, and now that information about KS has become available worldwide, the true prevalence of this syndrome outside of Japan will hopefully be forthcoming.…”

“…Gastrointestinal abnormalities in KS are rare, with an incidence of approximately 5% (3,20). While malrotation of the intestines has been reported in several patients (3,29,40), the majority of patients have abnormalities of the anus or rectum in the form of anal atresia, anovestibular fistula, or anteriorly placed anus (7,18,49). Biliary atresia has also been reported, as has neonatal sclerosing cholangitis that required a liver transplantation (20,32,47).…”

Aural atresia and microtia in Kabuki syndrome

“…Other common signs were skeletal abnormalities, unusual dermatoglyphic patterns, mild to moderate mental retardation, hearing loss, and postnatal growth retardation [Halal et al, 1989]. Uncommon signs such as anorectal anomalies, precocious puberty, and lower lip pits were observed [Niikawa et al, 1988; Matsumura et al, 1992; Franceschini et al, 1993; Kokitsu‐Nakata et al, 1999]. Here, we describe a Brazilian boy with typical facial of Kabuki syndrome with aural atresia and microtia.…”

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

“…Clinical findings such as cleft lip and/or cleft palate, anorectal anomalies, precocious puberty, lower lip pits, inner ear abnormalities, craniosynostosis, and central nervous system anomalies have also been observed [Niikawa et al, 1988; Matsumura et al, 1992; Franceschini et al, 1993; Kokitsu-Nakata et al, 1999; Igawa et al, 2000; Petzold et al, 2003; Abdel-Salam GM et al, 2008; Martínez-Lage et al, 2010; Lodi et al, 2010; Yoshioka et al, 2011]. …”