Antley-Bixler syndrome in a sister and brother

Suzuki, Koichi; Kanda, Yasusi; Sugiyama, Kohachiro; Katoh, Toshiyuki; Wada, Yoshiro; Yasui, Yoji

doi:10.1007/bf01876879

Cited by 18 publications

(15 citation statements)

References 3 publications

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“…The "cardinal" manifestations of Antley-Bixler syndrome as stated in a review by Hassell and Butler [1994] include craniosynostosis, severe midface hypoplasia, proptosis, choanal atresia/ stenosis, frontal bossing, abnormal ears, depressed nasal bridge, radiohumeral synostosis, long bone fractures, femoral bowing, and urogenital abnormalities. The inheritance pattern of Antley-Bixler syndrome is presumed to be autosomal recessive because of the occurrence of consanguinity and families with unaffected parents and affected sibs [Schinzel et al, 1983;Suzuki et al, 1987]. Kitoh et al [1996] proposed minimum diagnostic criteria for Antley-Bixler to include only the "characteristic craniofacial appearance associated with the synostosis of the elbow joints of various forms."…”

Section: Craniosynostosis Syndrome Phenotypementioning

confidence: 99%

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

et al. 1999

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Fibroblast growth factor receptor (FGFR) mutations have been found in craniosynostosis syndromes with and without limb and/or dermatologic anomalies. Ocular manifestations of FGFR2 syndromes are reported to include shallow orbits, proptosis, strabismus, and hypertelorism, but no ocular anterior chamber, structural abnormalities have been reported until now. We evaluated three unrelated patients with severe Crouzon or Pfeiffer syndrome. Two of them had ocular findings consistent with Peters anomaly, and the third patient had opaque corneae, thickened irides and ciliary bodies, and shallow anterior chambers with occluded angles. Craniosynostosis with and without cloverleaf skull deformity, large anterior fontanelle, hydrocephalus, proptosis, depressed nasal bridge, choanal stenosis/ atresia, midface hypoplasia, and elbow contractures were also present. These patients had airway compromise, seizures, and two died by age 15 months. All three cases were found to have the same FGFR2 Ser351Cys (1231C to G) mutation predicted to form an aberrant disulfide bond(s) and affect ligand binding. Seven patients with isolated Peters anomaly, two patients with Peters plus syndrome, and three cases with typical Antley-Bixler syndrome were screened for this mutation, but none was found. These phenotype/genotype data demonstrate that FGFR2 is involved in the development of the anterior chamber of the eye and that the Ser351Cys mutation is associated with a severe phenotype and clinical course.

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Section: Craniosynostosis Syndrome Phenotypementioning

confidence: 99%

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

et al. 1999

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“…Most patients with ABS die of severe respiratory complications in their first months, though long-term survivors have been reported [Kitoh et al, 1996;DeLozier-Blanchet, 1989]. The inheritance was suggested to be autosomal recessive based on two families with sib recurrence with both sexes being affected [Schinzel et al, 1983;Suzuki et al, 1987] and on two cases as a result of consanguineous unions [Yasui et al, 1983;Feigin et al, 1995]. However, one of the consanguineous families is in fact the same family with sib recurrence and both sexes affected [Suzuki et al, 1987;Yasui et al, 1983].…”

Section: Introductionmentioning

confidence: 99%

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome

et al. 1998

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The Antley-Bixler syndrome (ABS) is a rare syndrome with synostosis of cranial sutures and elbow joints as minimal diagnostic criteria. The inheritance has been suggested to be autosomal recessive based on two families with sib recurrence with both sexes being affected, and two cases born to consanguineous parents. We report the first case of ABS associated with an apparent dominant de novo mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient was found to be heterozygous for a C-->G transversion at nucleotide 1064, which predicts a Ser351Cys amino acid substitution in the IgIII domain of FGFR2. Apart from the craniosynostosis and elbow ankylosis, our patient also presented with severe spinal dysraphism, the first report of such a finding in association with ABS. This suggests that FGFR2 is expressed as early as the fourth week of embryogenesis when somite formation occurs. We propose that the Antley-Bixler syndrome is an autosomal dominant condition with possible gonadal mosaicism. Alternatively, there may be two types of ABS: an autosomal dominant form and an autosomal recessive form. In light of our findings, FGFR mutations should be looked for in other craniosynostosis patients with elbow synostosis.

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“…Since the first report in 1975, more than 45 cases have been reported 3 . The inheritance was suggested to be autosomally recessive based on two families with sibling recurrence with both sexes being affected and on a case resulting from consanguineous union 4–6 . Missense mutations in fibroblast growth factor receptor 2 gene (FGFR2) have been reported to cause ABS phenotype in some patients, which indicated ABS is an autosomal dominant condition 7–10 .…”

mentioning

confidence: 99%

Abnormal steroidogenesis in three patients with Antley–Bixler syndrome: Apparent decreased activity of 17α‐hydroxylase, 17,20‐lyase and 21‐hydroxylase

Adachi

Asakura

Tachibana

et al. 2004

Pediatrics International

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Combined decreased 17alpha-hydroxylation, 17,20-lyase activity and 21-hydroxylation was detected in three ABS patients. Considering that the enzymes responsible are all cytochrome P450 enzymes and that another cytochrome P450 enzyme, lanosterol 14alpha-demethylase, has recently been shown to be impaired in an ABS patient, we speculate that dysfunction of a system which commonly regulates cytochrome P 450 activity may be responsible for the ABS phenotype.

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Antley-Bixler syndrome in a sister and brother

Cited by 18 publications

References 3 publications

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome

Abnormal steroidogenesis in three patients with Antley–Bixler syndrome: Apparent decreased activity of 17α‐hydroxylase, 17,20‐lyase and 21‐hydroxylase

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