phenylephrine-hydrochloride and Stillbirth

Topics: Adult; Constriction, Pathologic; Female; Fetal Diseases; Holoprosencephaly; Humans; Incisor; Magnetic Resonance Imaging; Maxilla; Nose; Pregnancy; Prenatal Diagnosis; Stillbirth; Syndrome

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.. 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.. 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.

Topics: Abnormalities, Multiple; Anophthalmos; Biliary Atresia; Cesarean Section; Female; Fraser Syndrome; Humans; Nose; Pregnancy; Stillbirth; Syndactyly; Syria; Ultrasonography, Prenatal; Young Adult

We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed wide cranial sutures, severe hydrocephalus with separation of the right and left hemispheres of the brain, preservation of the olfactory bulb and first and second cranial nerves. The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis.

Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Encephalocele; Face; Female; Forehead; Humans; Hydrocephalus; Infant, Newborn; Limb Deformities, Congenital; Mandibulofacial Dysostosis; Nose; Radiography; Stillbirth; Vagina

Raine syndrome is an autosomal recessive condition with generalized osteosclerosis, characteristic facial dysmorphism and brain abnormalities including intracerebral calcifications. We report on a case with Raine syndrome born to nonconsanguineous couple and report the prenatal sonogram/MRI, the fetopathology, and neuropathology findings.

Topics: Autopsy; Bone and Bones; Bone Diseases, Developmental; Brain; Facial Bones; Humans; Magnetic Resonance Imaging; Male; Nose; Osteosclerosis; Prenatal Diagnosis; Stillbirth; Syndrome