Abstract Background Extracranial congenital skin defects, defined as aplasia cutis congenita (ACC), are a rare clinical entity. The form of presentation varies among patients according to the causal agent and point during pregnancy at which defect occurs. We present series cases noncranial ACC, analysing its possible etiopathogenesis evolution lesions. Materials methods This is retrospective re...

Congenital absence of left circumflex artery is a rare congenital anomaly of the coronary arteries. The prevalence of the anomaly in different studies ranges from 0.6% to 1.3%. Of these, 80% are benign and asymptomatic and 20% are clinically important. We report a 56-year-old man presented with acute resting chest pain who was diagnosed as having acute anterolateral infarction accompanied by el...

Following in the footsteps of Billard and Ballantyne, Edith Potter founded from the 1930s onwards the modern subspecialty of perinatal pathology. Her name is eponymously linked with the facial characteristics of infants with bilateral renal agenesis.

fanconi syndrome was first described in 1927 by g.fanconi. fanconi syndrome with congenital aplastic anemia is a hereditary disorder in which peripheral blood pancytopenia and bone marrow hypoplasiais often associated with multiple somatic congenital malformations such as microcephaly, skeletal anomalies (absence or hypoplasia of radial or thumb or both of them), brown hyperpigmentation of the ...

purpose : to report a new familial presentation of hypoplasia and absence of superior rectus in the form of unilateral monocular elevation deficiency case report : a 7-year-old boy was referred to our center (poostchi eye clinic) with a chief complaint of ocular misalignment in his right eye since birth. one of his siblings was a known case of unilateral monocular elevation deficiency and was o...

OBJECTIVE Bart's syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart's syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet. We report a ra...