Otolaryngologic manifestations of kabuki syndrome

Peterson‐Falzone, Sally J.; Golabi, Mahin; Lalwani, Anil K.

doi:10.1016/s0165-5876(96)01443-7

Cited by 28 publications

(29 citation statements)

References 22 publications

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“…Respiratory abnormalities in KS are relatively uncommon, although Peterson‐Falzone et al reported airway problems in 58% of patients who presented to a multidisciplinary craniofacial clinic (31). Recurrent pneumonia appeared to be the most common problem, but this may actually be related to immune dysfunction, which will be discussed in a separate section, as opposed to true airway abnormalities.…”

Section: Manifestations By Organ Systemmentioning

confidence: 99%

“…It should be noted that while frequent infections are common in KS, laboratory evidence of immune dysfunction has been documented only rarely (see section on Immunologic/hematologic). Hearing loss has been reported in up to 82% of patients ascertained through a multidisciplinary craniofacial clinic (31), but the true prevalence of hearing loss is probably closer to 20-30% (3,10,18,20). Hearing loss has been characterized as conductive, sensorineural, or mixed (11,31,32).…”

Section: Otolaryngologic Findings and Hearingmentioning

confidence: 99%

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Kabuki syndrome: a review

2004

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Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. A number of other manifestations involving other organ systems can aid in the diagnosis and management of KS. This review will focus on the diagnostic criteria, the common and rare features of KS by organ system, and the possible etiology of this interesting condition.

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Section: Manifestations By Organ Systemmentioning

confidence: 99%

Section: Otolaryngologic Findings and Hearingmentioning

confidence: 99%

Kabuki syndrome: a review

2004

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“…Clinical problems included strabismus, chronic otitis, early growth delay with stature at the 3rd centile until age 4 years, and severe speech delay with an ''immature personality'' that necessitated special education. Physical findings at age (Koutros and Fisher [1982]; Braun and Schmid [1984]; Kaiser-Kupfer et al [1986]; Pagon et al [1986]; Sheikh et al [1986]; Pe Benito and Ferreti [1989]; Halal et al [1989]; Meinecke and Rodewald [1989]; Gillis et al [1990]; Carciane et al [1991]; Clarke and Hall [1991]; Philip et al [1992]; Franceschini et al [1993]; Hudgins et al [1993]; Hughes and Davies [1994]; Say et al [1993]; Schrander-Stumpel et al [1993]; excluding cases 9-13 described here), two from Wulfsberg et al [1994], seven from Burke and Jones [1995], five from Gálá n-Gomez et al [1995], 10 from Ilyina et al [1995], two from Lynch et al [1995], two from Li et al [1996], two from Ho and Eaves [1997], and single cases from Stalder et al [1991], Jardine et al [1993], Fryns et al [1994], Wellesley and Slaney [1994], Devrient et al [1995Devrient et al [ , 1996, Hostoffer et al [1996], Silengo et al [1996], Van Hagen et al [1996], Chu et al [1997], Peterson-Falzone et al [1997], Wappler and Standl [1997]. Asian patients include 60 summarized by Schrander-Stumpel et al…”

Section: Clinical Reportsmentioning

confidence: 99%

Thirteen cases of Niikawa-Kuroki Syndrome: Report and review with emphasis on medical complications and preventive management

Wilson

1998

Am. J. Med. Genet.

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Eight new and five previously illustrated patients with Niikawa-Kuroki syndrome (NKS) are compared to those in the literature, providing data on 183 cases. Eight patients had disproportionate microcephaly and in one autopsied patient there was frontal lobe atrophy, focal polymicrogyria, and a hypoplastic fourth ventricle. The metacarpophalangeal pattern profiles of three Caucasian patients with NKS were similar to that of a prior case report, but those of two Hispanic patients were more variable. NKS was eliminated by follow-up in nine suspect cases, highlighting the diagnostic value of findings such as arched eyebrows, long palpebral fissures, flat nasal tip, and prominent finger pads. One patient suspected of having NKS had a very different metacarpophalangeal pattern profile, supporting its diagnostic utility in selected cases. Higher frequencies of neonatal complications, abnormal dentition, hypotonia, and microcephaly were noted in non-Asian patients with NKS, while a higher frequency of skeletal anomalies was seen in Japanese patients. Complications affecting cognitive, visual, hearing, cardiac, renal, skeletal, immune, and endocrinologic functions are translated into a program for preventive management. X chromosome anomalies are the most compelling of diverse genetic changes seen in NKS, and this report adds another case to several possible instances of vertical transmission. The 108 non-Asian patients now reported emphasize the worldwide significance of NKS recognition.

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“…It has been shown that mental retardation is not a constant feature in NKS [3]. Hearing loss, mainly due to recurrent otitis media, has been detected in approximately 40% of reported individuals [5,7]. Summary Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa-Kuroki (Kabuki) syndrome (NKS).…”

Section: Introductionmentioning

confidence: 99%