Results 131 to 140 of about 2,580 (168)

Autoimmune disorders in Kabuki syndrome

American Journal of Medical Genetics Part A, 2004
AbstractKabuki syndrome is associated with abnormalities in multiple organ systems. While many of the anomalies are congenital malformations, other clinical manifestations may not appear until later in childhood. Among these associated conditions, autoimmune abnormalities have been described in several patients.
Jeffrey E, Ming, Karen L, Russell, Donna M, McDonald-McGinn, Elaine H, Zackai   +3 more
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Kabuki syndrome: a case report

Journal of Orthodontics, 2006
This article reports the case of an 8-year-old female with Kabuki syndrome and the oral/dental implications of this syndrome, namely hypodontia with interdental spacing, abnormal tooth morphology, malocclusion and a defect in the anterior midline of the palate. The oral findings will aid the clinician in diagnosing this syndrome, which was once thought
Z H S, Lung, A, Rennie
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Patellar dislocation in Kabuki syndrome

American Journal of Medical Genetics, 2002
AbstractWe describe four individuals (two females and two males) with Kabuki syndrome and recurrent dislocation of the patella. The age of diagnosis of patellar dislocation ranged from 11 to 23 years. One individual underwent excision of the free fragment and transfer of the tibial tuberosity with good outcome.
Kenji, Kurosawa, Hiroshi, Kawame, Yukikatsu, Ochiai, Masanosuke, Nakashima, Takaya, Tohma, Hirofumi, Ohashi   +5 more
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Kabuki make-up syndrome

The Indian Journal of Pediatrics, 2004
Kabuki make-up syndrome is a rare disorder characterized by mental retardation, postnatal dwarfism and peculiar facies. This condition is believed to be common in Japan, but has been reported from other parts of the world. The authors report a case of this syndrome in an eight-year-old girl, with the characteristic findings from India.
M L, Kulkarni, Sudarshan K, Shetty, V K, Chandrasekar, Preethi M, Kulkarni   +3 more
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Speech characteristics in the Kabuki syndrome

American Journal of Medical Genetics Part A, 2002
AbstractSix children with Kabuki syndrome were studied to investigate speech patterns associated with the syndrome. Each child's speech was characterized with regard to articulation (types of errors and intelligibility), pitch (high or low), loudness (volume of speech), and prosody (general quality of speech that combines rate and inflection).
Sheila, Upton, Carmella S, Stadter, Pat, Landis, Eric A, Wulfsberg   +3 more
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Pilomatricoma Associated with Kabuki Syndrome

Pediatric Dermatology, 2016
AbstractWe report three cases of pilomatricomas associated with Kabuki syndrome (KS), supporting the hypothesis proposed of an association between pilomatricomas and KS and suggesting a noncoincidental association, because the Wnt pathway mutations involved could affect both morphogenesis and tumorigenesis in these patients.
Fanny-Emmanuelle, Bernier, Ariane, Schreiber, Jérome, Coulombe, Afshin, Hatami, Danielle, Marcoux   +4 more
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Ectodermal abnormalities in Kabuki syndrome

American Journal of Medical Genetics, 1997
We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisors, hypodontia, hypoplastic nails, and brittle hair. Abnormal teeth are common in NKS and support a hypothesis of autosomal dominant inheritance of the syndrome [Halal et al., 1989; Silengo et al., 1996]. Hair abnormalities have never been investigated in NKS.
M, Lerone, M, Priolo, A, Naselli, M, Vignolo, G, Romeo, M C, Silengo   +5 more
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Multiple Pilomatricomas in Kabuki Syndrome

Pediatric Dermatology, 2012
Abstract:  Pilomatricoma is a benign tumor of the hair matrix cell that presents predominantly in childhood. Although pilomatricoma occurs spontaneously, multiple pilomatricomas have been described in association with several inherited syndromes.
Atsumori, Hamahata, Wataru, Kamei, Masashi, Ishikawa, Hisato, Konoeda, Takashi, Yamaki, Hiroyuki, Sakurai   +5 more
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Developmental outcome in Kabuki syndrome

American Journal of Medical Genetics Part A, 2004
AbstractOver the last 20 years, a wide spectrum of congenital anomalies have been described in association with Kabuki syndrome (KS). However, very little information is available on developmental outcome. As more individuals with this syndrome are recognized and reported, it appears that as many as one‐sixth may have normal intelligence.
Keith K, Vaux, Kenneth L, Jones, Marilyn C, Jones, Susan, Schelley, Louanne, Hudgins   +4 more
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Neonatal phenotype in Kabuki syndrome

American Journal of Medical Genetics Part A, 2004
AbstractThe Kabuki syndrome is a well‐established pattern of human malformation with readily recognizable features, however the diagnosis is rarely made in the newborn period. The purpose of this study was to determine if there exists a neonatal phenotype for this disorder.
Keith K, Vaux, Louanne, Hudgins, Lynne M, Bird, Elizabeth, Roeder, Cynthia J R, Curry, Marilyn, Jones, Kenneth L, Jones   +6 more
openaire   +2 more sources