A severe case of Beare-Stevenson syndrome and associated congenital deformities

Andrews, Jorge M.; Martins, Dulce Maria Fonseca Soares; Ramos, Roberto Rudge; Ferreira, Lydia M.

doi:10.1016/0007-1226(93)90053-e

Cited by 14 publications

(13 citation statements)

References 2 publications

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“…This patient had skin pitting of the bilateral ears. Hearing has been described in one additional patient with malformed ears and an open auditory meatus, which the authors report ''seemed normal'' [61]. Hearing loss may be common in this syndrome, but is likely overlooked due to preoccupation with other medical issues.…”

Section: Jackson-weiss Syndrome Beare-stevenson Syndrome and Crouzonmentioning

confidence: 95%

“…Beare-Stevenson syndrome is a rare craniosynostosis syndrome associated with mutations in FGFR2, and is clinically characterized by cutis gyrata (furrowed skin), acanthosis nigricans, craniosynostosis, umbilical and anogenital anomalies, and early mortality [40,[59][60][61][62][63]. A summation of all audiological series of Beare Stevenson syndrome reveals hearing loss in 1/26 patients (4%).…”

Section: Jackson-weiss Syndrome Beare-stevenson Syndrome and Crouzonmentioning

confidence: 96%

“…A summation of all audiological series of Beare Stevenson syndrome reveals hearing loss in 1/26 patients (4%). Of these 26 patients reported to date, 24 have descriptions of the physical examination of the ear [40,61,62,[64][65][66][67][68][69][70][71][72][73][74][75][76][77][78]. Of these 24 patients, only one patient was not described as having ear malformations.…”

Section: Jackson-weiss Syndrome Beare-stevenson Syndrome and Crouzonmentioning

confidence: 99%

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Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

Agochukwu

Solomon

Muenke

2014

International Journal of Pediatric Otorhinolaryngology

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Section: Jackson-weiss Syndrome Beare-stevenson Syndrome and Crouzonmentioning

confidence: 95%

Section: Jackson-weiss Syndrome Beare-stevenson Syndrome and Crouzonmentioning

confidence: 96%

Section: Jackson-weiss Syndrome Beare-stevenson Syndrome and Crouzonmentioning

confidence: 99%

See 1 more Smart Citation

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

Agochukwu

Solomon

Muenke

2014

International Journal of Pediatric Otorhinolaryngology

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“…Many of the features are characteristic of some of the autosomal dominant craniosynostotic syndromes. Since the first case described by J. M. Beare et al in 1969 (1), seven cases have been reported (2)(3)(4)(5)(6)(7).…”

mentioning

confidence: 99%

Mutation in the FGFR2 gene in a Taiwanese patient with Beare–Stevenson cutis gyrata syndrome

Wang

Huang

Tsai³

et al. 2002

Clinical Genetics

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The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --> Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.

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“…Although the number of cases is small, there does not appear to be any phenotypic differences in cases of Beare–Stevenson due to Tyr375Cys versus Ser372Cys, similar to the lack of phenotypic difference between the mutations known to cause Apert syndrome. The patient described by Andrews et al [] was excluded from our summary table because, although the patient did have some phenotypic overlap with Beare–Stevenson, there was no craniosynostosis and there were additional features suggestive of ectodermal dysplasia, and he had balanced translocation between chromosomes 7 and 18.…”

Section: Discussionmentioning

confidence: 99%

Beare–Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve

Wenger

Bhoj

Wetmore

et al. 2015

American J of Med Genetics Pt A

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Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such as Apert, Pfeiffer, and Crouzon syndromes. BSS presents with craniosynostosis, cutis gyrata, and significant developmental delay in most patients who survive infancy. There have only been 21 reported patients with BSS, which limits prognostication for clinicians and likely does not capture the full extent of the phenotype. Here we report on two additional patients with molecularly confirmed BSS, one each with p.Ser372Tyr and p.Tyr375Cys mutations in FGFR2. Cloverleaf skull was identified prenatally in one patient, with initial concern for Crouzon syndrome. Prenatal 3D ultrasound was performed, but cutis gyrata was only visible on retrospective examination following the clinical diagnosis of BSS after birth. Due to phenotypic overlap with Crouzon syndrome, but worse prognosis, we recommend consideration of prenatal 3D ultrasound and mutation testing for patients with suspected Crouzon to allow for prenatal diagnosis of BSS and to enable appropriate genetic counseling and postnatal care. One of our patients was noted to have a tracheal cartilaginous sleeve, which if present could explain sudden death. Of note, tracheal cartilaginous sleeves have been reported in other FGFR2-related craniosynostosis syndromes, and are associated with 90% risk of death by two years of age without tracheostomy. Tracheal cartilaginous sleeves are often only found incidentally at autopsy as they are difficult to diagnose without direct visualization of the trachea. This association and our experience suggests that BSS patients be evaluated for tracheal cartilaginous sleeve to prevent airway compromise.

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A severe case of Beare-Stevenson syndrome and associated congenital deformities

Cited by 14 publications

References 2 publications

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

Mutation in the FGFR2 gene in a Taiwanese patient with Beare–Stevenson cutis gyrata syndrome

Beare–Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve

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