Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report.
BMC Pregnancy Childbirth
; 20(1): 358, 2020 Jun 10.
Article
em En
| MEDLINE
| ID: mdl-32522149
ABSTRACT
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atresia Biliar
/
Anoftalmia
/
Síndrome de Fraser
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
País/Região como assunto:
Asia
Idioma:
En
Revista:
BMC Pregnancy Childbirth
Assunto da revista:
OBSTETRICIA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Síria