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].

References

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	Year	Citations
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A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation Yoshikazu Kuroki, Yasuyuki Suzuki, Hiroyuki Chyo, The Journal of Pediatrics Developmental AnomalyThumb HypoplasiaNew Malformation SyndromeDevelopmental BiologyPediatrics	1981	451
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients C. T. R. M. Schrander‐Stumpel, Peter Meinecke, Golder N. Wilson, European Journal of Pediatrics MedicineFurther DelineationPathologyNeurologyNon-japanese Patients	1994	116
Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make‐up (Niikawa‐Kuroki) syndrome P Franceschini, M. P. Vardeu, Andrea Guala, American Journal of Medical Genetics Kabuki Make-up SyndromePathologyLower Lip Pits1/2-Year-old PatientKabuki Make‐up	1993	50
Anorectal anomalies associated with Kabuki make-up syndrome Mitsuyoshi Matsumura, Ryoji Yamada, Yuuichi Kitani, Journal of Pediatric Surgery Developmental AnomalyGross AnatomyPathogenesisHistopathologyPathology	1992	33

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