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 transmiss...Continue Reading
The cryptophthalmos-syndactyly syndrome. Description, manner of inheritance, and notes on the eye lesions
Oculo-cerebral dysplasia: aplasia of the optic nerve with familial microphthalmos and cryptophthalmus. Clinical and computer tomography study
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1
Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome
Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis
Delivery of anesthesia and complications for children with Fraser syndrome: a review of 125 anesthetics
Free tarsomarginal graft for large congenital coloboma repair in patients with Tessier number 10 clefts
Nephronectin plays critical roles in Sox2 expression and proliferation in dental epithelial stem cells via EGF-like repeat domains
Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: new syndrome or Fraser syndrome?
Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature
Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with Fraser syndrome
Fraser and Ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation
New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians
Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/absence, micropenis and ambiguous genitalia, imperforate anus
Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings: a new autosomal recessive syndrome or a variant of Fraser syndrome?
Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings
New syndromes from old: evaluation of heterogeneity and variability in syndrome definition and delineation
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report
The monster of Ascheraden: A description of syndromic cryptophthalmos by poet Daniel Hermann in "De monstroso partu…" published in Riga, 1596
Repair of isolated abortive cryptophthalmos with lower eyelid switch flap and amniotic membrane graft
Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives
Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review
Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report.
Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.
Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis