Fraser Syndrome

Fraser Syndrome - a combination of cryptophthalmos with urogenital and acrofacial anomalies. This syndrome was first described by S. Fraser in 1962.The incidence of this anomaly is 4 cases per 1000000 newborns and 1 case per 10000 stillborn.type of inheritance of the disease autosomal recessive, as this type of abnormality found in children who are born to closely related marriages( with the risk of relapse leaves about 25%)

Cryptophthalmos - the absence or underdevelopment of the eyeball, which is often combined with a lack of eye slits and eyelids

Symptoms and signs of Fraser syndrome

The presence of a child syndrome Fraser indicate four main clinical signs: abnormal development of reproductive organs( hypertrophy of the clitoris, is atresiagalischa, bicornuate uterus, cryptorchidism, hypospadias), syndactyly, Cryptophthalmos and the presence of such disorders in blood sisters or brothers. Additional signs indicating the presence of this syndrome include: a cleft of the oral cavity, a violation of the structure of the auricles, nose, larynx;Mental retardation, skeletal abnormalities, unilateral or bilateral renal agenesis, umbilical hernia. In some cases, this syndrome can occur defects lacrimal duct, impaired teat location and umbilical ring hypertelorism, median cleft face, defects of the middle ear, atresia of the external auditory canal, atresia and stenosis laryngeal atresia anus, hypoplasia of the mesentery of the small intestine

Diagnostics

DiagnosisFraser syndrome prenatally adjusted based on the revealed combination microphthalmia, syndactyly, obstructive uropathy and lung airways obstruction, which developed entirelyquently ascites, water scarcity, larynx atresia and fetal hydrops

Differential diagnosis

hyperechoic lungs may occur during atresia of the bronchi and trachea, lung sequestration, adenomatous - vice cystic lung and a third type of diaphragmatic hernia. Differential diagnosis is carried out with Cryptophthalmos alobarnoy goloprozentsefaliey, which is easy enough to be distinguished based on the simple form of hydrocephalus was observed in the fetus with the syndrome Fraser.

For renal agenesis and laryngeal atresia, the prognosis of life is lethal. In cases where cryptophthalm is the main sign of Fraser's syndrome, even in rare cases of possible surgical correction, very low visual acuity remains.

Obstetric tactics with timely intrauterine diagnosis of this defect depends on the prevailing anomalies present. If the fetus has a larynx atresia or kidney agenesis, an artificial termination of pregnancy may be recommended.