Cryptophtalmie bilatérale dans un syndrome de Fraser : à propos d’un cas et revue de la littérature

Touré, Abdoulaye; Diomande, I.; Nouraly, H.; Berete, R.; Koffi, Konan Virgile; Kodjikian, Laurent

doi:10.1016/j.jfo.2014.09.022

Cited by 6 publications

(5 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Treatment options for Fraser syndrome are currently limited despite progress made in terms of the field of genetics. The global recommendation is surgical management depending on the malformations present (anal imperforation, syndactyly, cryptophthalmos, limb and skeletal defects, ambiguous external genitalia, respiratory tract or uro-genital anomaly), psychological support and genetic counseling for parents [2, 5, 15]. Hence, the above case was referred to a pediatric surgeon in order to evaluate the feasibility of the surgical management of cryptophthalmos, anal imperforation, syndactyly and external genitalia.…”

Section: Discussionmentioning

confidence: 99%

“…Also known as Fraser-Francois syndrome, Meyer-Schwickerath’s syndrome, Ulrich-Feichtiger syndrome or cryptophthalmos-syndactyly syndrome, or simply Fraser syndrome, this syndrome was first described by Pliny the Elder, and first published in 1962 by a Canadian geneticist named George R. Fraser [1, 2]. It is a rare and autosomal recessive disease, with an incidence below 0.043 per 10,000 live births and 1.1 per 10,000 stillbirths [3].…”

Section: Introductionmentioning

confidence: 99%

“…It is a rare and autosomal recessive disease, with an incidence below 0.043 per 10,000 live births and 1.1 per 10,000 stillbirths [3]. Fraser syndrome is characterized by several congenital malformations such as cryptophthalmos, syndactyly, ear anomalies, respiratory tract malformations, and urogenenital anomalies [2, 4, 5]. Fraser syndrome is genetically distinguished by several mutations caused by the FRAS1, FREM1, FREM2 and GRIP1 genes essentials for the adhesion between the basal membrane and connective tissues during the embryonic period [5–7].…”

Section: Introductionmentioning

confidence: 99%

“…Alternatively, a patient with Fraser syndrome can be diagnosed based on two of the major criteria and one minor criterion or one major criterion and four minor criteria mentioned above [9]. The disease can be suspected during the prenatal period by ultrasound detection of related malformations’ signs, and nearly 25% of foetuses with Fraser syndrome are delivered stillborn [2, 5]. The prognosis of survivors greatly depends on the overall combination of malformations which may require surgery for a definitive cure [2, 5].…”

Section: Introductionmentioning

confidence: 99%

“…The disease can be suspected during the prenatal period by ultrasound detection of related malformations’ signs, and nearly 25% of foetuses with Fraser syndrome are delivered stillborn [2, 5]. The prognosis of survivors greatly depends on the overall combination of malformations which may require surgery for a definitive cure [2, 5]. Herein, we present a case of Fraser syndrome with several visible malformations overlooked at birth and diagnosed fortuitously at the age of six months when the infant was sick of another disease.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report

et al. 2019

View full text Add to dashboard Cite

Background Fraser syndrome is a rare genetic disorder that often presents with ocular, renal, genital and limb’s congenital anomalies. The prognosis of this genetic disorder depends on the severity of the combination of congenital malformations, some of which may be fatal. The diagnosis of Fraser syndrome is based on established clinical criteria and genetic tests. The criteria enabling clinical diagnosis are visible dysmorphic features present at birth, hence, Fraser syndrome can easily diagnosed at birth, except when health professionals are inexperienced in clinical recognition. Herein, we report a case of Fraser syndrome missed out at birth and fortuitously diagnosed at the age of six months in a bid to raise clinicians’ awareness, particularly in resource-limited settings. Case presentation We report a case of a six-month-old Cameroonian female infant, born at home and taken the following day to a primary healthcare facility for neonatal care. Her mother had no antenatal care until birth. She presented at our health center with respiratory distress and fever. She had a temperature of 38.8 °C and signs of left lung basal consolidation, suggestive of a left lower lober pneumonia, confirmed on chest x-ray. Other incidental clinical findings were several dysmorphic features like bilateral cryptophthalmos, nasal malformation, anal imperforation (with a perianal fistula), an external genital anomaly and syndactyly characteristic of Fraser syndrome associated with pneumonia. The patient responded well to intravenous antibiotics for the treatment of her pneumonia. Thereafter, she was referred to a pediatric surgeaon for surgical corrections of her bilateral cryptophthalmos, anal imperforation, external genital defect and syndactyly. Conclusion Here we presented a case of Fraser syndrome in a Cameroonian infant whose diagnosis was missed out at birth and fortuitously made at six months of age. In view of the serious and potentially fatal complications of this genetic disorder, we draw clinicians’ attention, especially obstetricians, midwives and pediatricians for a high index of clinical suspicion geared at a timely diagnosis and management. Also, for a timely diagnosis, health education on regular antenatal and postnatal follow ups of the mother-infant couple respectively, cannot be overemphasized.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report

et al. 2019

View full text Add to dashboard Cite

show abstract

Prenatal ultrasound diagnosis of complete cryptophthalmos, congenital aphakia, and corneal vascularization in a fetus: A case report and literature review

Liang,

Kong,

Luo

et al. 2024

European Journal of Obstetrics & Gynecology and Reproductiv

View full text Add to dashboard Cite

Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report

Alsaman

Agha

Sallah

et al. 2020

BMC Pregnancy Childbirth

View full text Add to dashboard Cite

Background: Fraser syndrome or "cryptophthalmos syndrome" is a rare autosomal recessive disease. It is characterized by a group of congenital malformations such as: crytophthalmos, syndactyly, abnormal genitalia, and malformations of the nose, ears, and larynx. Although cryptophthalmos is considered as a main feature of Fraser syndrome, its absence does not exclude the diagnosis. Clinical diagnosis can be made by Thomas Criteria. Here we present the first documented case of Fraser Syndrome in Aleppo, Syria that is characterized by bilateral anophthalmia and intrahepatic biliary atresia. Case presentation: During pregnancy, several ultrasound scans revealed hyperechoic lungs, ascites, and unremarkable right kidney at the 19th-week visit; bilateral syndactyly on both hands and feet at the 32nd-week visit. On the 39th week of gestation, the stillborn was delivered by cesarean section due to cephalopelvic disproportion. Gross examination showed bilateral anophthalmia, bilateral syndactyly on hands and feet, low set ears, and ambiguous genitalia. Microscopic examination of the lung, spleen, liver, ovary, and kidneys revealed abnormalities in these organs. Conclusion: The diagnosis of Fraser syndrome can be made prenatally and postnatally; prenatally by ultrasound at 18 weeks of gestation and postnatally by clinical examination using Thomas criteria. Moreover, intrahepatic biliary atresia was not described previously with Fraser syndrome; this recommends a more detailed pathologic study for Fraser syndrome cases.

show abstract

Cryptophtalmie bilatérale dans un syndrome de Fraser : à propos d’un cas et revue de la littérature

Cited by 6 publications

References 7 publications

Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report

Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report

Prenatal ultrasound diagnosis of complete cryptophthalmos, congenital aphakia, and corneal vascularization in a fetus: A case report and literature review

Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report

Contact Info

Product

Resources

About