Patients of Fraser Syndrome
- Patient Serial No - 1
Age:
0
Sex:
male
Location:
dhaka
Clinical Features:
The patient showed an inability to open eyes since birth and delayed crying. He had respiratory distress since birth. Mother was detected to have gestational diabetes in the last trimester but gives no history of Insulin to control it. Mother received homeopathic treatment in her 1st trimester of pregnancy. There was no history of consanguinity of marriage. The baby was delivered by Lower uterine cesarean section. On examination, the baby was found to be term weighing 4700 gm. His both eyes seemed to be anophthalmic. The baby was dysmorphic. The nose was small with hypoplastic nares and a broad and depressed nasal bridge. Syndactyly of 3rd, 4th and 5th finger of both hands were present. There was a chordee. Baby was tachypneic and 1st and 2nd heart sounds were normal. A systolic murmur was audible in the left 2nd intercostal space. Occipitofrontal circumference was 37 cm. The baby was provisionally diagnosed as an Infant of a diabetic mother (IDM) with mild perinatal asphyxia and multiple congenital anomalies.
Biochemical Data:
On investigation haemoglobin was 13.8 gm/dl, TC of WBC was 16000/cmm. DC of WBC was normal. Blood sugar was monitored according to protocol and it was within normal range. Blood for TORCH antibody showed positive IgG only.
treatement and management:
The baby was managed with protocolized treatment like IV fluid, O2 supplementation, and antibiotic.
Remarks:
The patient was referred to the department of Ophthalmology, Sir Salimullah Medical College Mitford Hospital and after examination, the patient was found to have bilateral hidden eyes (cryptophthalmos) with no eyelashes. Finally, he was diagnosed with IDM, mild perinatal asphyxia, and Fraser syndrome (FS). The diagnosis of FS was made in view of the presence of bilateral cryptophthalmos, syndactyly, and genital abnormality with chordee.