Frequency of infantile pyloric stenosis and ocular abnormalities in Turner's syndrome in Bahawalpur city

Turner's syndrome is one of the most common of all chromosomal abnormalities. Pyloric stenosis is the most common pediatric surgical disorder of infancy that requires surgery for associated emesis.4 Ocular abnormalities are common in Turner's syndrome, but are under estimated and often neglected. The study that was hospital - based observational, was conducted from September 1[st], 2005 to August 31, 2011 in the Al-Noor Hospital Yazman [Bahawalpur] in collaboration with ophthalmology department, Bahawal Victoria Hospital Bahawalpur. Laboratory investigations including electrolytes, blood gas analysis, and osmolality were done in pathology department, Quaid-e-Azam Medical College Bahawalpur. Frequency of pyloric stenosis in infants from 0 - 6 months 64.95% and infants 6 - 12 months is 35.09%, the ocular abnormalities amblyopia 19%, strabismus 23%, phoria only 43.5%, epicanthus 10%, hypertelorism 3%, ptosis 1%, nystagmus 0.5%. There is a high frequency of ocular abnormalities and pyloric stenosis in infants with karyotype XO. Timely diagnosis may save from devastating effects of ocular complications leading to blindness and life threatening alkalosis due to pyloric stenosis in infants below one year of age

Hipoplasia dérmica focal: síndrome de Goltz / Focal dermal hypoplasia: Goltz's syndrome

Apresentamos um novo caso de síndrome de hipoplasia dérmica focal (Síndrome de Foltz) uma síndrome congênita rara, mais frequente em mulheres, com particular atençäo para as anormalidades oculares associadas

Hallazgos oculares en el síndrome de Hay-Wells / Ocular reward on Hay Wells syndrome

Se presenta un caso de histiocitoma fibroso maligno de la órbita de un masculino de un año de edad, originario de Amatlán, municipio de Córdoba, Ver.; se hacen las consideraciones clínicas, quirúrgicas y consejo genético pertinente para el caso. Se señala que es el primer caso reportado en México.

Persistent hyaloid vascular system

Fifteen case were collected from Ain Shams University hospital representing different manifestations of persistent hyaloid vascular system within 5 years. Different manifestations were found, ranging from small arteriovenous loop, up to definite leucocoria. A study of the embryology of hyaloid artery is presented, as well as, enumeration of the common findings in this anomaly with their clinical importance

Post mortem pathological findings in eyes of premature babies

In this work 26 eyes of premature and small for date babies were pathologically studied for criteria of prematurity, congenital and pathological abnormalities. Manifestations suggestive of arrested development were detected such as, the incomplete retinal vasculature and remnants of hyaloid vascular system in various degrees. Some congenital anomalies were found as abnormal persistance of posterior vascular tunic of the lens, retinal dysplasia, sutural cataract and proliferation of corneal endothelium. Retinal haemorrhages were found in cases suffering from birth trauma. Data suggestive of anoxia were also detected such as congestion and dilatation of the choroidal and retinal vessels. Other pathological findings as post retinal cellular infiltration, posterior synechia and proliferation of the retinal pigment epithelium were detected