this female infant was the 3,200 g product of a 38-week gestation delivered by spontaneous vaginal delivery to a 30-year - old mother . the mother 's pregnancy was uncomplicated , and the family history was unremarkable . at birth , the baby was noted to have a prominent forehead , narrow palpebral fissure , hypertelorism , and a broad nose ( fig . skeletal survey showed bilateral hypoplastic first ribs , right - sided fifth finger clinodactyly , and prominent long phalanges of the fourth digits on both feet ( fig . she was suspected to have a chromosomal anomaly and was referred to the ophthalmology department for evaluation of possible ocular abnormalities . on examination at two weeks of age , she had weak pupillary response to light but no blink or avoidance response to strong light . with regard to the horizontal length of the palpebral fissure , the right and the left were 1.7 and 1.6 cm , respectively , which was considered short . telecanthus and hypertelorism were also present ; intercanthal distance was 2.8 cm , and interpupillary distance was 4.3 cm ( fig . slit - lamp examination of both eyes revealed normal anterior segments , and dilated fundus examination revealed normal optic nerves and retinal vasculature . retinal pigment epithelial mottling and atrophy in the macula of both eyes with diffuse retinal pigmented epithelium drop - out in the mid and periphery were observed ( fig . 3 ) . after a three - month lapse from the original examination , fix and follow behavior was not consistent in either eye , and there were no interval changes to the lesions in the retina . continued observation after this was no longer possible due to follow - up loss . an echocardiogram demonstrated a small ventricular septal defect and patent ductus arteriosus , and an abdominal ultrasound showed a normal sized liver and kidneys with normal echogenicity . chromosomal analysis of peripheral blood revealed a mosaic complement with trisomy 14 ( 47,xx,+14 ) and a normal female complement ( 46,xx ) ( fig . neither parent had a significant past medical history nor a family history of ophthalmologic issues , and both had normal fundus findings . also , the results of chromosomal analysis were normal in peripheral blood . although complete trisomy 14 is not compatible with postnatal life , trisomy 14 mosaicism has been diagnosed in newborns and children with multiple congenital anomalies . this chromosomal abnormality was first described in 1970 , and there are several characteristic features which may enable the clinician to suspect this diagnosis prior to obtaining a chromosome analysis . the most common features are growth and psychomotor retardation , dysmorphic craniofacial features such as abnormal or low - set ears , micrognathia , cleft or highly arched palate , short neck , and congenital heart and genitourinary abnormalities . ophthalmologic features include hypo- and hypertelorism , downward slanting of the palpebral fissure , blepharoptosis , deep - set eye , eversion of the eyelids , a " evanescent translucent film over the eyes , " and microophthalmia [ 1 - 4 ] . retinal pigmentary dystrophy was not previously described in any reports of this chromosomal abnormality . in other chromosomal abnormalities such as trisomy 21 ( down 's syndrome ) and trisomy 18 ( edward 's syndrome ) , , focal hyperplasia of the retinal pigment epithelium has been reported , and retinal depigmentation is reported to be a clinical feature in trisomy 18 . in mosaic trisomy 14 , several other more unusual features have been described but are seen in a smaller percentage of patients . one such feature is abnormal skin pigmentation , which is a common finding in individuals with mosaic chromosomal abnormality . in trisomy 14 mosaicism , hyper- and hypopigmentation of the skin have been reported , so chromosome 14 is supposed to be related to pigmentation of the epithelium . the patient we describe did not exhibit abnormal skin pigmentation at birth , yet this was evident by three months . howard et al .   have reported a patient who had a ring 14 with a terminal deletion but no retinal pigmentation . they suggested that a region on chromosome 14 proximal to q32.2 might be involved in controlling these changes . further electrophysiologic testing would be helpful to determine if there are any abnormalities of either the rods or cones in association with trisomy 14 mosaicism , though neither has been previously reported . the lesion of the retina persisted for three months ; lesions both in the periphery as well as in the posterior pole should be considered as retinal dystrophy . we expand the clinical spectrum of this rare entity with dysmorphic features and ocular abnormalities to include retinal dystrophy .
trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features . 
 we report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities , which has not been previously reported in association with trisomy 14 . 
 this case expands the clinical spectrum of this rare entity .