medium epicantic fold and b negative blood type

#Medium epicantic fold and b negative blood type full#

9 The clinical presentations of Edward's syndrome are characterized by antenatal growth deficiency, specific craniofacial features, major system malformations and marked psychomotor and cognitive developmental delay. 9 Antenatal diagnosis of trisomy 18 leads to termination of pregnancy in 86% of cases. 7, 8, 9, 10 Most cases in the developed countries are diagnosed antenatally based on screening by maternal age, maternal serum marker screening or detection of sonographic abnormalities during second or third trimester.

5, 6, 7 Risk factors for the disease include a positive family history in close relatives and rising maternal age.

#Medium epicantic fold and b negative blood type full#

Full trisomy 18 is the most common form occurring in about 94% of cases. The parents declined strabismus surgery.Įdward's syndrome, as a genetic disorder, results from full, mosaic, or partial trisomy 18q. In order to evaluate the differential diagnosis such as infectious, metabolic, and endocrine diseases, TORCH study (anti-toxoplasma, anti-rubella, anti-cytomegalovirus, and anti-herpes simplex virus IgG and IgM antibodies), blood amino acids, serum lactate, and thyroid function tests had been tested which revealed normal results. In the fundus examination, decreased red reflexes along with retinal folds, pigmentary retinopathy (patches of hyperpigmentation in the fovea and retinal periphery), and optic disc atrophy in both eyes were seen. There was some limitation of abduction in versions but ocular ductions were full in both eyes.

Visual acuity was central-steady-maintain (CSM) in both eyes. On the initial ophthalmic examination, bilateral ptosis, epicanthal folds, and 40 prism diopters alternate ET, measured with Krimsky method were seen ( Fig. 2).

Three-year-old girl with esotropia (ET) and Edward's syndrome.