Malformative condition present at birth and
characterized by the association of cryptophthalmos with a wide range of
abnormalities (orofacial defects, syndactyly, decreased number of digits,
urogenital and renal malformations).
Fraser-François Syndrome; Cryptophthalmos Syndrome;
Cryptophthalmos Syndactyly Syndrome; Cryptophthalmos Syndactyly Cyclopism
Syndrome; Meyer-Schwickerath Syndrome.
0.043:10,000 liveborn infants and 1.1:10,000
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).
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 are necessary for diagnosis.
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.
The airway is of primary concern to
the anesthesiologist. Often, the airway difficulty is noticed at delivery of the newborn
and may be associated with bad outcome. In elective
surgery, in addition to concerns regarding the airway, renal agenesis or
impairment must be considered.
The pattern of airway abnormalities
causes significant problems with airway management, and most of these
children require tracheostomies early in life. Orotracheal intubation has
been very challenging ...