Fraser's syndrome.AP Agashe, SD Adrianwala, SS Bhatti, CP Contractor
Dept. of Opthalmology, KEM Hospital, Parel, Bombay, Maharashtra.
A full term female baby at birth showed the features of Fraser's syndrome viz. upper lid coloboma, cryptophthalmos, abnormal groove over temporal region, dysmorphic facies, hypospadias and bilateral syndactyly. On ultrasound examination of the abdomen and left orbit, maldeveloped kidney and eyeball were found. Other siblings were not affected. The child died at the age of 3 months.
Keywords: Abnormalities, Multiple, ultrasonography,Case Report, Coloboma, ultrasonography,Eyelids, abnormalities,Facial Bones, abnormalities,Female, Human, Infant, Newborn, Kidney, abnormalities,Syndactyly, ultrasonography,Syndrome,
Fraser's syndrome is a rare condition. Duke-Elder  mentions about 150 cases collected from literature. We report here one such case and review the available literature.
A 2.225 kg full term female baby was born of a non-consanguinous marriage. The right eye showed a large upper lid coloboma and a large central corneal opacity. The left side had a cryptophthaimos with complete covering of the globe with skin.
The baby also showed an abnormal groove over the left temporal region, notching of nostrils, bilateral microtia, dysmorphic facies, high arched palate, hypospadias and bilateral syndactyly.
On ultrasound examination, the left orbit showed a small sized eye ball and a dermoid anterior to it. On ultrasonic examination of the abdomen, the right kidney was found to be hypoplastic.
Chromosomal analysis of the affected child was not done. The other siblings were not affected.
At 3 months ago, the baby developed gastroenteritis and dehydration and died. The parents refused an autopsy.
Fraser observed in each of 2 sibships, 2 sisters affected at birth by various combinations: cryptophthalmos, absent or malformed lacrimal ducts, middle and outer ear malformations, high palate, cleavage along the midplane of nares and tongue, hypertelorism, laryngeal stenosis, syndactyly, wide separation of symphisis pubis, displacement of umbilicus and nipples, primitive mesentery of small bowel, maldeveloped kidneys, fusion of labia and enlargement of clitoris and bicornuate uterus and malformed Fallopian tube More Detailss.
Fraser's syndrome is a rare condition. Duke-Elder mentions about 150 cases collected from literature. In some cases, autosomai recessive inheritance is postulated and families with multiple siblings affected, have been reported. No specific chromosomal abnormalities are known to be associated with this syndrome.
The most accepted pathogenesis theory of cryptophthaimos is primary failure of lid fold formation with corneal and conjunctival epithelial metaplasia into skin. Other mechanisms such as re-fusion of partially formed lid folds to each other and to the globe, localised mechanical obstruction by amniotic bands are also postulated, especially in cases of partial cryptophthalmos.
Some of the characteristic malformations of Fraser's syndrome occur in areas that remain temporarily fused in utero: the eyelids, the digits and the vagina. Since separation of the eyelids and digits involves a process of controlled necrosis, Thomas et al speculated about a defect in programmed cell death. They also postulated the defects in metabolism of retinoid may play a role in pathogenesis.
Patients with Fraser's syndrome may also show other ocular features like anterior segment deformities, lens abnormalities-bupthalmos. Other systemic manifestations include malformed teeth, umbilical hernia, spina bifida, meningo-encephalocele etc. Interestingly, Koenig and Spranger identified 5 cases of the cryptophthalmos- syndactyly syndrome without cryptophthalmos. The diagnosis of Fraser's syndrome is entertained in patients with a combination of acrofacial and uro-genital malformations with or without cryptophthalmos: the eye lesions are nonobligatory components of the syndrome.
Ide and Wollschlaeger described an isolated case of Fraser's syndrome who had syndactyly, deformity of the nares and abnormal hairline over temporal region.
A Fraser's syndrome can be easily distinguished from other syndromes with facial malformations such as frontonasal dysplasia (median-cleft face syndrome) by concurrent occurance of acrofacial and urogenital malformations and absence of features like hypertelorism, epibulbar dermoid (to be distinguished from orbital dermoid), wide or broken vermilion border of the upper lips, transethmoidal or transsphenoidal encephalocele.
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