The association between cryptophthalmos and multiple congenital malformations has been well documented over the last century. Numerous authors have described cases as the cryptophthalmos syndrome, but recently reports of cases without cryptophthalmos have led several authors to use the eponymic designation Fraser syndrome. We have seen seven cases of cryptophthalmos syndrome, including three sib pairs. All presented with cryptophthalmos and bilateral renal agenesis in addition to other characteristic associated malformations. A literature review showed 124 cases in which 27 demonstrated isolated cryptophthalmos, while 97 showed a pattern of multiple congenital malformations. We selected four major and eight minor criteria which enabled us to classify 86 of those cases as having cryptophthalmos syndrome with 11 remaining unclassified. Cryptophthalmos demonstrates equal sex distribution, occurrence in sibs, consanguinity in families with more than one affected child, and lack of vertical transmission--strongly suggesting autosomal recessive inheritance. Isolated cryptophthalmos or cryptophthalmos sequence was sporadic in 16 cases and familial in 11. The familial cases occurred in three families and demonstrated vertical transmission. The pathogenesis of this syndrome is unknown. There are similarities to animal models of maternal vitamin A deprivation and defects in programmed cell death. Cryptophthalmos syndrome should be considered in the differential diagnosis of cases with multiple congenital malformations, especially when they are associated with renal agenesis, even in the absence of cryptophthalmos.

Isolated and syndromic cryptophthalmos.

Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the kidneys and microphthalmia were sonographic markers leading to the prenatal detection of this rare autosomal recessive disorder in earlier reports. We report a case of Fraser syndrome diagnosed at 16 weeks' gestational age in a woman whose previous pregnancy was terminated because of multiple fetal malformations. Abnormal sonographic findings included bilateral agenesis of the kidneys, dilated trachea and main bronchi (suggestive of high airway obstruction), hyperechogenic lungs, syndactyly of the fingers, hepatomegaly, oligohydramnios and hydrops placentae. Face and cerebral structures appeared normal. These findings together with those of the previously affected child led to the diagnosis of Fraser syndrome. The parents elected to terminate the pregnancy. Autopsy results were confirmatory. In conclusion, prenatal diagnosis of Fraser syndrome is possible in the hands of an expert, but due to the great variety of possible malformations the diagnosis will remain doubtful in most cases in which no previous child is affected.

https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1046/j.1469-0705.2001.00374.x

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.

Brothers are reported with an apparently new constellation of manifestations including Dandy-Walker complex (DWC), migrational brain disorder, macrocephaly, and facial anomalies. The first brother presented at birth, the second was detected prenatally with DWC and the pregnancy terminated. Fetal brain histopathology showed DWC associated with brainstem dysgenesis. Inheritance is likely autosomal or X-linked recessive. An extensive review of the differential diagnosis of DWC is provided.

Familial Dandy‐Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: Prenatal diagnosis and postnatal outcome in brothers. A new syndrome?

Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

In this report we describe an apparently new MCA-MR syndrome with Dandy-Walker malformation in three severely mentally retarded siblings born to normal, non-consanguineous parents. In addition, they presented macrocephaly, facial dysmorphism, extreme myopia and brachytelephalangy with short and broad finger-nails.

An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation.

The authors report on two siblings with severe malformations of the eyes. The 16-year-old girl has bilateral microphthalmus with aplasia of the right optic nerve and a Dandy-Walker cyst of the cerebellum. The right eye has no optic disk or retinal vessels. Her 13-year-old brother has unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus. In a computer tomography examination no optic nerve could be demonstrated on the left. The presence of an oculocerebral dysplasia in a brother and sister with healthy parents suggest an autosomal-recessive mode of inheritance of the aplasia of the optic nerve with microphthalmus and/or cryptophthalmus.

[Oculo-cerebral dysplasia: aplasia of the optic nerve with familial microphthalmos and cryptophthalmus. Clinical and computer tomography study].

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[Oculo-cerebral dysplasia: aplasia of the optic nerve with familial microphthalmos and cryptophthalmus. Clinical and computer tomography study].