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At a glance

Malformative condition present at birth and characterized by the association of cryptophthalmos with a wide range of abnormalities such as orofacial defects, cutaneous syndactyly, decreased number of digits, urogenital, and renal malformations (ambiguous genitalia).

Synonyms

Fraser-François Syndrome; Cryptophthalmos Syn­drome; Cryptophthalmos Syndactyly Syndrome; Cryptophthalmos Syndactyly Cyclopism Syndrome; Meyer-Schwickerath Syndrome.

Incidence

0.043:10,000 liveborn infants and 1.1:10,000 stillbirths.

Genetic inheritance

Autosomal recessive.

Pathophysiology

Pathogenesis is unclear. However, embryologically, it has been suggested that the neural ectodermal optic vesicle is responsible for induction of lens development. Abnormal lack of lens development prevents adequate migration of anterior neural crest structures leading to deficiency in the development of the eyelids, cornea, lens, and anterior chamber. A defect of apoptosis has been suggested, as several of the anomalies result from failure of programmed cell death (fusion of the eyelids, digits, larynx, and vagina).

Diagnosis

The diagnosis should be considered in patients with a combination of acrofacial and urogenital malformations with or without cryptophthalmos. The occurrence of the Cryptophthalmos Syndrome without cryptophthalmos is an argument for using the eponym Fraser Syndrome rather than Cryptophthalmos-Syndactyly Syndrome. The most characteristic malformations of the Fraser Syndrome are temporarily fused eyelids in utero, digits, and the vagina. Pulmonary hyperplasia, laryngeal stenosis, and renal agenesis have been associated. Markedly enlarged echogenic lungs can be observed at 16 and 17 weeks of gestation. The reported frequency of cryptophthalmos is 93% and syndactyly 54%. The major diagnostic criteria are cryptophthalmos, syndactyly, and abnormal genitalia. Minor criteria are congenital malformation of the nose, ears, larynx, cleft lip/palate, skeletal defects, umbilical hernia, renal agenesis, and mental retardation. The presence of two major and one minor criteria or one major and four minor criteria is necessary for diagnosis.

Clinical aspects

Clinical features include bilateral cryptophthalmos, absent or malformed lacrimal ducts, middle and outer ear malformations, high arched palate, cleavage along the midplane of nares and tongue, hypertelorism, laryngeal stenosis, syndactyly, wide separation of symphysis pubis, displacement of umbilicus and nipples, primitive mesentery of small bowel, maldeveloped kidneys; fusion of labia and enlargement of clitoris, and bicornuate uterus. In the male infant, undescended testes and small penis with hypospadias are characteristic when associated with bilateral cryptophthalmos. Death or serious morbidity is common in the first year of life. This is related to upper respiratory tract infection associated with the abnormal anatomy of the airway. Renal abnormalities (including renal agenesis) contribute to mortality and morbidity in early life. Very few patients are reported to have light perception, and they are considered clinically or profoundly blind.

Precautions before anesthesia

Children with Fraser Syndrome present for a variety of surgical and radiological procedures. The airway is of primary concern to the anesthesiologist. Often, ...

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