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Journal of the Anatomical Society of India

Fraser Syndrome With Unusual Features-A Case Report

Author(s): *Mahadevan, B; *Bhat, B.V; *Sastri, A.T; **Rao, S; **Kusre, G.

Vol. 51, No. 1 (2002-01 - 2002-06)

Department of *Paediatrics & **Anatomy, JIPMER, Pondicherry, INDIA.

Abstract

Fraser Syndrome is a rare autosomal recessive disorder characterized by partial webbing of the fingers and toes (partial syndactyly), renal abnormalities, genital malformations and/or, in some cases, complete fusion of the eyelids (cryptophthalmos). A preterm child with Fraser syndrome presenting with unusual abnormalities is reported.

Key words: crytopthalmos syndrome anophthalmia.

Introduction:

Fraser (1962) described the first report of autosomal recessive cryptophthalmos syndrome Francois (1969) observed the main features to be crytophthalmos, anomalies of the hand, ears, nose, syndactyly, and genital abnormalities. Here we report a preterm baby with Fraser syndrome and associated unusual anomalies.

Case Report

This newborn baby was the third child of healthy non-consanguineous parents delivered by vaginal route at 34 weeks of gestation. The mother was 26 years old, the first pregnancy spontaneously aborted at 4 months of gestation, and the second one was a full term normal baby delivered at home. The birth weight was 2.23 kg and crown rump length was 32 cm. The craniofacial examination showed prominent forehead, wide opened fontanelle, depressed nasal bridge and a broad nose. Head circumference was 30 cm. Both eyeballs were absent with normal eyelids and eyelashes. A tongue of hair growth extended from anterior hairline into lateral margin of the orbit. The ears were malformed and low set. Both the hands were hypoplastic with a single digit on either side. Six digits were present in both legs with partial syndactyly of great toe and second tow on both sides. Clubfoot was present on right side (Fig. 1). Genitalia showed a prominent phallus with complete labial fusion and absent testes. Roentgenographic examination showed absence of frontal bones, absent radius, no carpal bones with single phalangeal bone on both hands. Polydactyly was present on both lower limbs. The body had severe respiratory distress and died 11 hrs after birth.

Postmortem examination revealed absence of squamous part of frontal bone with shallow cranial cavity (Fig. 2). No abnormality was detected in brain. Eyeballs were absent on both sides. Extraocular muscles were well developed. Thread like optic nerve was present on both sides. Right lung was hypoplastic with normal fissures and vessels. There was left brachiocephalic vein with hypertrophied right atrium and ventricles. Urinary bladder was hypoplastic with bilateral renal agenesis. Genital tract abnormalities included hypoplastic uterus, absent right ovary and vaginal atresia.

Discussion:

The findings in this case are compatible with the diagnosis of Fraser syndome (cryptophthalmos syndrome) according to the diagnostic criteria proposed by Thomas et al (1986). The major criteria include cryptophthalmos, syndactyly, sibling with cryptophthalmos and abnormal genitalia. The minor features are congenital malformations of nose, ear and larynx, skeletal defects, umbilical hernia, renal agenesis and mental retardation. The presence of two major criteria or one major and four minor criteria are needed for diagnosis.

In our case, the baby had anophthalmos, syndactyly and ambiguous genitalia as major and congenital malformations of nose, ears, skeletal defects and renal agenesis as minor criteria. Fraser syndrome is other wise known as cryptophthalmos syndrome. However, cryptophthalmos is not an essential component of this syndrome. Various authors have reported Fraser syndrome without cryptophthalmos (Thomas et al 1986, Mortimer et al 1986 and Gattuso et al 1987). A review of 87 cases by Thomas et al (1986) showed absence of cryptophthalmos in 14 cases.

This is the first case report of Fraser syndrome presenting as bilateral anophthalmia, skeletal defects and renal agenesis. The skeletal abnormalities relate to the development of ocular abnormalities (Mortimer et al 1986). This probably represents the developmental arrest of these organs occuring at the same time. Two types of anophthalmia are described clinically. In true primary anophthalmia, tissues are not derived from optic vesicles whereas in secondary anophthalmia the orbits contain remnants of tissues derived from optic vesicles. Our case represents secondary anophthalmia.

Reported abnormalities of urinary tract include bilateral agenesis with hypoplastic urinary bladder. Renal hypoplasia reported as a cause of oligohydramnios, potter's facies and could be the cause for pulmonary hypoplasia in our case (Schauer et al, 1990).

Ambiguous nature of the genitalia is evident in this case. There are no endocrinological studies reported in spite of the high frequency of genital abnormalities in this syndrome (Gattuso et al 1987). Only five cases of Fraser syndrome with congenital cardiac defects have been reported in the literature. Our case had dilated left brachiocephalic vein and hypertrophied right atrium and ventricle.

Fraser syndrome should be suspected in all cases of stillbirths with renal agenesis (Jones 1999). Twenty five percent of affected fetuses are stillborn and 25 percent die during the first year of life. Death is usually secondary to renal agenesis and laryngeal stenosis. No affected individual has been reported to have reproduced.

References :

  1. Francois, J. (1969): Syndrome malformatif avec cryptophthalmie. Annals Genertics Medical Gemellol (Roma). 18: 18-50.
  2. Fraser, G.R. (1962): Our genetical 'load'. A review of some aspects of genetic variation. Annals of Human Genetics. 25: 387-415.
  3. Gattuso, J., Patton, M.A., Baraitser, M. (1987): The clinical spectrum of the Fraser syndrome: report of three new cases and review Journal of Medical Genetics. 24: 549-555.
  4. Jones, K.J.: Smith's recognizable pattern of human malformations. 5th Edn, W.B. Saunders co. Philadelphia: pp 242-244. (1999).
  5. Mortimer, M., McEwan, H.P., Yates, J.R.W., (1986): Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis. Journal of Medical Genetics. 22: 76-78.
  6. Schauer, G.M., Dunn, L.K., Godmilow, L., Eagle, Jr, R.C., Knisley, A.C. (1990): Prenatal diagnosis and Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks. American Journal of Medical Genetics. 37: 583 91.
  7. Thomas, I.T., Fraias, J.L., Felix, V., Leon, L.S., Hernandez, R.A., Jones, M.C. (1986): Isolated and syndromic Cryptophthalmos. American Journal of Medical Genetics. 25: 85-98.

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Fig. 1. Fraser Syndrome showing anophthalmos, absent testes, abnormal facies, single digit in upper limbs, and polydactyly in lower limbs.

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Fig. 2. Autopsy photograph showing absence of frontal bone.

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