general physical examination at age 15 years showed : height 113 cm ( <3 percentile ) , weight 10 kg ( <3 percentile ) , and head circumference 48 cm .
he was apparently well up to the age of 18 months , later he developed failure to thrive , loss of hair , prominent eyes and joints , and senile appearance .
systemic examination revealed craniofacial disproportion , mandibular and maxillary hypoplasia , prominent scalp veins ,  plucked bird appearance , thin lips , irregular and carious teeth , dental crowding , beaked nose , protruding ears with absent ear lobes , pyriform thorax , thin limbs , prominent and stiff joints , wide - based gait and shuffling , thin and high - pitch voice , incomplete sexual maturation , generalized alopecia , absence of subcutaneous fat , thin and wrinkled 
x - ray survey of the skeletal system showed radiolucent terminal phalanges ; coxa vulga , enlarged metaphysis of long bones , short dystrophic clavicle and osteoporosis [ fig . 4a and b ] .
his best corrected visual acuity was 20/20 , n6 in both eyes ( be ) with -1.25 cylinders at 161 in right eye ( re ) and -0.50 cylinders at 41 in left eye ( le )
. external photograph of a 15-year - old hutchinson - guilford progeria male patient ( a ) showing disproportionately small face in comparison to the head , micrognathia , prominent eyes , both upper eyelids retraction , beaked nose , thin lips .
( b ) prominent scalp veins , alopecia with grey and sparse hairs , and protruding ears with absent earlobe ( a ) upper jaw dental crowding and dental caries ( b ) lower jaw dental crowding and dental caries prominent joints of hand ( red arrow : metacarpophalangeal joints , blue arrow : interphalangeal joints ) with loss of subcutaneous fat , nail dystrophy and sclerodematous skin ( a ) x - ray hand showing radiolucent terminal phalanges ( white arrow ) and osteoporotic changes ( black arrow ) .
( b ) x - ray shoulder joint showing dystrophic and short clavicle ( white arrow ) external ocular examination showed excessive wrinkling of forehead , superior sulcus deformity , inner canthal distance 20 mm , outer canthal distance 58 mm , inter - pupillary distance 40 mm , vertical palpebral fissure 12 mm , horizontal palpebral fissure 20 mm , lagophthalmos 2 mm , upper eyelid retraction 2.5 mm , upper lid lag in down gaze 5 mm , in be , nearly total loss of eyebrows and eyelashes , a few present eyelashes and eyebrows showed poliosis [ fig .
thus , in view of the characteristic clinical presentation , imaging studies , and urine analysis , the child was diagnosed to have hgp syndrome .
( a ) both upper lids lag in down gaze , superior sulcus deformity , loss of eyelashes and eyebrows .
the hgp syndrome is an extremely rare , fatal , genetic disorder of childhood with striking features resembling premature aging .
the hgp syndrome has a slight male predilection ; the male - to - female ratio is 1.5:1 .
the incidence of the hgp syndrome has been estimated at 1 in 4 - 8 million live births .
the clinical diagnosis of the hgp syndrome is based on recognition of characteristic features and exclusion of other progeroid syndromes .
children with progeria usually have a normal physical appearance in early infancy . at approximately one to two years of age ,
affected children develop severe growth retardation , resulting in short stature , low weight and delayed anterior fontanel closure .
these children develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head , micrognathia , delayed dentitions , dental malformation and crowding , beaked nose , prominent eyes , nasolabial circumoral cyanosis and loss of scalp hair , eyebrows , and eyelashes .
other characteristic features include generalized atherosclerosis , cardiovascular diseases and stroke , hip dislocations , prominent scalp veins , lipodystrophy , dystrophy of nails , joint stiffness , skeletal defects , and/or other abnormalities .
the most common reported ocular features are prominent eyes , loss of eyebrows and eyelashes , and lagophthalmos .
other rare ocular manifestations of the hgp syndrome are bands of skin running from the upper lid to the cornea , senile ectropion , ptosis with marcus - jaw - winking phenomenon , dry - eye syndrome , corneal dryness , keratopathy , iridocorneal adhesions , corneal opacities , corneal clouding , cataract , strabismus , irregular nystagmoid movements , myopia , hyperopia , retinal arteriolar narrowing and tortuosity , and retinal angiosclerosis.[468 ] many of these findings are based on individual case reports and are absent in the present case .
the ophthalmic anthropometric measurements such as horizontal palpebral fissure length , interpupillary distance , inner canthal distance , outer canthal distance in our patient are less than aged - matched normal indian values .
eyelid retractions , lagophthalmos , lid lag in down gaze , are due to inelastic and taut skin .
poor pupillary dilatation may be due to ischemic changes in the iris muscles secondary to microvascular insufficiency induced by atherosclerosis , however , visible atrophic changes were absent on slit - lamp examination in our patient . in the hgp syndrome eyes
looks prominent ( pseudoproptosis ) probably due to lid retraction , although there is no true proptosis .
interestingly , patients with hgps do not develop other ocular features associated with aging , such as presbiopia , arcus senilis or age - related macular degeneration .
the hgp syndrome should be differentiated from other progeroid syndromes such as werner 's syndrome ( adult progeria ) , wiedemann - rautenstrauch syndrome ( neonatal progeria ) , hallermann - streiff syndrome , mandibuloacral dysplasia , cockayne 's syndrome , rothmund - thomson syndrome , metageria and acrogeria .
the average life expectancy is 13 years , with an age range of 7 - 27 years .
the most common cause of death is myocardial infarction or congestive cardiac failure , secondary to widespread atherosclerosis . at present
ophthalmic manifestations / signs / features / findings  ,  eye  ,  premature ageing syndrome  and various combinations thereof .
all cross - references in citing literature were included in our search and referenced . to the best of our knowledge , lid retraction , lid lag in down gaze , superior sulcus deformity and poor pupillary dilatation
 the hutchinson - gilford progeria ( hgp ) syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children . 
 the word progeria is derived from the greek word progeros meaning  
 prematurely old. it is caused by de novo dominant mutation in the lmna gene ( gene map locus 1q21.2 ) and characterized by growth retardation and accelerated degenerative changes of the skin , musculoskeletal and cardiovascular systems . 
 the most common ocular manifestations are prominent eyes , loss of eyebrows and eyelashes , and lagophthalmos . in the present case 
 some additional ocular features such as horizontal narrowing of palpebral fissure , superior sulcus deformity , upper lid retraction , upper lid lag in down gaze , poor pupillary dilatation , were noted . in this case report , a 15-year - old indian boy with some additional ocular manifestations of the hgp syndrome is described . 
Case Report
Discussion