Concepedia

Lower lip pits and anorectal anomalies in Kabuki syndrome

Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini, Maria Leine Guion‐Almeida

American Journal of Medical Genetics · 1999 · 31 citations · 5 references

DOI

Concepts

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

5

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

Norio Niikawa, Nobuo Matsuura, Yoshimitsu Fukushima et al. · The Journal of Pediatrics · 1981 · 534 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 et al. · The Journal of Pediatrics · 1981 · 451 citations

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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 et al. · European Journal of Pediatrics · 1994 · 116 citations

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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 et al. · American Journal of Medical Genetics · 1993 · 50 citations

, , +6

Anorectal anomalies associated with Kabuki make-up syndrome

Mitsuyoshi Matsumura, Ryoji Yamada, Yuuichi Kitani et al. · Journal of Pediatric Surgery · 1992 · 33 citations

, , +6