ENT manifestations of Fraser syndrome

Ford, G. R.; Irving, Richard; Jones, N S; Bailey, C. M.

doi:10.1017/s0022215100118444

Cited by 28 publications

(11 citation statements)

References 9 publications

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“…It is believed that 25% of Fraser syndrome cases are stillborn and a further quarter dies within the first year of life [Ford et al, ; Kalpana Kumari et al, ]. The major causes of early death in Fraser syndrome include laryngeal stenosis/atresia and bilateral renal agenesis or obstructive uropathy [Boyd et al, ].…”

Section: Discussionmentioning

confidence: 99%

Fraser Syndrome: Epidemiological Study in a European Population

Barišić

Odak

Loane

et al. 2013

American J of Med Genetics Pt A

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Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230,695 births, compared to the prevalence 1 in 1,091,175 for the rest of Europe (P = 0.0003). Consanguinity was present in 7/26 (27%) families. Ten (38%) cases were liveborn, 14 (54%) pregnancies were terminated following prenatal detection of a serious anomaly, and 2 (8%) were stillborn. Eye anomalies were found in 20/24 (83%), syndactyly in 14/24 (58%), and laryngeal anomalies in 5/24 (21%) patients. Ambiguous genitalia were observed in 3/24 (13%) cases. Bilateral renal agenesis was present in 12/24 (50%) and unilateral in 4/24 (17%) cases. The frequency of anorectal anomalies was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third of the total prevalence rate.

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Section: Discussionmentioning

confidence: 99%

Fraser Syndrome: Epidemiological Study in a European Population

Barišić

Odak

Loane

et al. 2013

American J of Med Genetics Pt A

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“…Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, external auditory meatal stenosis, choanal atresia, laryngeal atresia or stenosis. Ford et al described four patients with Fraser syndrome associated with subglottic stenosis [16]. The diagnosis of subglottic stenosis was made in three patients at the time of intubation for other reconstructive procedures.…”

Section: Concomitant Anomalies/syndromic Associationsmentioning

confidence: 99%

Partial cricotracheal resection for congenital subglottic stenosis in children: The effect of concomitant anomalies

George

Ikonomidis

Jaquet

et al. 2009

International Journal of Pediatric Otorhinolaryngology

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“…In a number of cases the cause of death was airway obstruction, inability to intubate the trachea and respiratory failure. Furthermore, infants with non-lethal forms of the syndrome have significant airway anomalies (Gattuso, Patton & Baraitser 1987;Mina, Greenberg & Levin 1988;Ford et al 1992). In this report, the infant's trachea was difficult to intubate and his postoperative course was complicated due to severe subglottic stenosis.…”

Section: Discussionmentioning

confidence: 71%