Differential Contribution of Fraser Syndrome and Anophthalmos: 4 Cases and Review of the Literature
Hassane Amadou Bouba Traore1*, Moctar Issiaka2, Laminou Laouali3, Abba Kaka Yakoura4 and Abdou Amza5
1*Faculty of Health Sciences, Dan Dicko Dan Koulodo University of Maradi, Ophthalmology Department, Maradi Regional Hospital, Niger
2Makkah Eye Hospital, Maradi, Niger
3Faculty of Health Sciences, André Saliffou University, Zinder, Ophthalmology Department, Zinder National Hospital, Niger
4Faculty of Health Sciences, AbdouMoumouni University, Niamey, Ophthalmology Department, Niamey National Hospital, Niger
5Faculty of Health Sciences, Abdou Moumouni University, Niamey, Ophthalmology Department, Amirou Boubacar Diallo National Hospital, Niamey, Niger
*Corresponding author: Dr Hassane Amadou Bouba Traoré, Faculty of Health Sciences, Dan Dicko Dan Koulodo University of Maradi, Ophthalmology Department, Maradi Regional Hospital, Niger
Citation: Bouba Traore HA, Issiaka M, Laouali L, Yakoura AK, Amza A. (2023) Differential Contribution Of Fraser Syndrome And Anophthalmos: 4 Cases And Review Of The Literature. Adv Clin Med Res. 5(1):1-11.
Received: November 21, 2023 | Published: January 13, 2024
Copyright© 2024 genesis pub by Traore HAB, et al. CC BY-NC-ND 4.0 DEED. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives 4.0 International License., This allows others distribute, remix, tweak, and build upon the work, even commercially, as long as they credit the authors for the original creation.
DOI: https://doi.org/10.52793/ACMR.2024.5(1)-74
Abstract
Fraser syndrome is an autosomal recessive genetic malformation. Diagnosis is established by the presence of at least two major and one minor criteria, or one major and four minor criteria. Congenital anophthalmia is the clinical absence of the eye at birth. It results from the absence of development or regression of the primary optic vesicle during embryonic life; it may be isolated or associated with other congenital malformations, and its management requires a multidisciplinary approach.
It is a rare and extremely serious pathology, due to the degree of impairment of visual function. We decided to use two (2) cases of Fraser syndrome two (2) cases of isolated exophthalmia recorded in our ophthalmology unit to carry out a prospective, cross-sectional observational study to provide a differential approach these two entities and to review the literature through this clinical observation.
Keywords
Fraser syndrome; Anophthalmos: Syndactyly: Cryptophthalmos
Introduction
Fraser syndrome was first described by George R. Fraser in 1962 as an autosomal recessive genetic malformation [1]. Diagnostic criteria are clinical, and include major criteria: cryptophthalmia, syndactyly, genital anomaly. And minor criteria: abnormalities of the ears, nose, larynx and/or palate, skeletal anomalies, umbilical hernias, renal agenesis, and mental retardation in survivors [2]. Congenital anophthalmia is the complete absence of the eye due to defective formation of the optic vesicle during the early stages of gestation [1]. The aim of this paper is to explain the difficulty of managing these pathologies, including the severity of their occurrence, to demonstrate the need for multidisciplinary management and, finally, to review the literature.
Methodology
This was a prospective, cross-sectional observational study covering the period from March 2021 to October 2023, or 33 months of data collected in our ophthalmology unit at the Maradi regional hospital. Our data collection technique was based on consultation of the register of patients followed up and seen in consultation for Fraser syndrome or isolated anophthalmia with no organic cause found.
Case Reports
Clinical observation 1:
A 15-day-old male neonate was referred to the ophthalmology department of the Maradi regional hospital for a poly malformities syndrome with complete bilateral occlusion of the eyelids. The pregnancy was spontaneous and unattended, with no evidence of drug intake or exposure to radiation by the mother during pregnancy.
The pregnancy was carried to term, and the delivery was carried out at home, vaginally, without complication. The newborn was predominantly breast-feeding. The mother was 22 years old and the father 31, all in apparent good health. he was the second of two siblings, the eldest 24 months old, in apparent good health with no malformative anomalies. On admission, the newborn was reactive, with good suction, well coloured, and weighed 3200g, with a head circumference of 34cm and a heel of 50cm.Physical examination to confirm occlusion complete level two eyes (Figure 1). Bidigital palpation noted the presence of an eyeball under the skin tissue, an elongated skull with part of the forehead invaded by hair, the root of the nose was depressed, the thoracic limbs showed a shape anomaly, syndactyly of the 3rd and 4th fingers (Figure 2), as did the pelvic limb, syndactyly of the 2nd and 3rd toes (Figure3). Elsewhere, other structures appeared normal.
Figure 1: Complete bilateral occlusion of the eyelids (observation 1).
Figure 2 :3rd and 4th finger syndactyly (observation 1)
Figure 3: Syndactyly of the 2nd, 3rd and 4th toes (observation 1).
The diagnosis of Fraser syndrome was retained in front of the presence of two major signs and less 3 minor criteria. In particular, cryptophthalmos, syndactyly of the 3rd and 4th fingers, and syndactyly of the 2nd and 3rd toes were considered to be the two major signs, and minor signs such as elongated skull, depressed nasal root, thoracic limbs with anomalous shape, and pelvic limb anomaly.
Observation 2:
This was a female newborn aged 3 days, referred to the ophthalmology department of the Maradi regional hospital for a poly malformative syndrome with an absent eyeball. The pregnancy was spontaneous and unattended, with no evidence of medication, drugs or exposure to radiation in the mother during pregnancy.
The pregnancy was carried to term, and the delivery was carried out at home, vaginally, without complications. The mother, aged 34, and father, aged 40, were all in apparent good health.
She comes from a sibling group of 7 children, of which she is the last, all in apparent good health with no malformative anomalies. It should be noted that there is a notion of first-degree consanguinity between the parents (direct cousins). Note the presence in the history of a similar case in a first-degree cousin with deafness and mental retardation who died at the age of 8.A l'admission, le nouveau-né réactif, avec une bonne sucions, bien colorée, pèse 2980g, un périmètre crânien à 33cm, une talle de 51cm.
Physical examination confirmed a complete bilateral absence of the eyeball in both eyes, by bi-digital palpation and speculum (Figure 4), with pseudo-bald, low-set ears (Figure 5) and depressed nasal root.
Figure 4: Bilateral anophthalmos (observation 2)
Figure 5: Löw ear implant( observation 2)
The thoracic limbs showed a shape anomaly, stumps following a traditional amputation by ligature of the supernumerary sixth digits (Figure 6 and 7), as well as polydactyly in the pelvic limbs (Figure 8 and 9). Elsewhere, other structures appeared normal.
Figure 6: Ligature amputation stump on the left (traditional)
Figure 7: Ligature amputation stump on the right (traditional)
Figure 8: Polydactyly left pelvic limb (observation 2)
Figure 9: Polydactyly right pelvic limb (observation 2)
The urogenital examination noted an anal imperforation with a genital anomaly involving a lack of differentiation of the labia minora and the clitoris. Due to the parents' disagreement, we were unable to obtain an illustrative image. The newborn was referred to the pediatric surgeon for advice and treatment.
Fraser syndrome was diagnosed on the basis of two major criteria: Genital anomaly and history of a similar case in the family, and minor signs such as anophthalmia, pseudo baldness, low-set ears and depressed nasal root.
Observation 3
This was a 4-day-old male newborn referred to the ophthalmology department of the Maradi regional hospital for an absent eyeball. The pregnancy was spontaneous and unattended, and there was no evidence that the mother had taken any medication, drugs or been exposed to radiation during pregnancy. The pregnancy was carried to term, and the baby was delivered at home, vaginally, without complications. The mother was 37 and the father 48, all in apparent good health. He came from a sibling group of 8 children, of whom he was the youngest, all in apparent good health with no malformative anomalies; there was a notion of first-degree consanguinity between the parents (direct cousins).
On admission, the newborn was responsive, with good suction, well coloured, and weighed 3301g, with a head circumference of 33cm and a heel of 49cm. Physical examination by bi-digital palpation and speculum, completed by ocular ultrasound, confirmed a complete bilateral absence of the eyeball in both eyes. Abdominal and pelvic ultrasound showed no organic anomalies. The diagnosis retained is that anophthalmia isolated no cause was found.A general assessment was carried out, including a cerebro-orbital scan revealing the absence of an ocular bulb in the orbital cavity. (Figure 10 and 11).