in this descriptive study, researchers determined rate and type of newborn infants’ anomalies in rafsanjen niknafas hospital in 1991-1995.  this study is resulted from medical records of mothers referring to above mentioned center during five years. total number of child birth was 21187. 17321 was normal vaginal delivery and 3866 was cesarean section. because of unknown reasons, 57 infants were...

The importance of identifying this anomaly is that it is associated with other congenital malformations in over 20% of cases, most commonly being associated with cardiovascular anomalies and congenital dislocation of hip. Of the 44 infants with this syndrome, Pape and Pickering found 27 to have major anomaly of skeletal, genitourinary, respiratory and cardiovascular systems. The disorder most c...

Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the ep...

We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophthalmia, ear anomalies, microcephaly, skeletal and...

nevoid basal cell carcinoma syndrome (nbccs), also known as gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms . the estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. main clinical manifestations include multiple basal cell carcinomas (bccs), odontogenic keratocysts o...

An adult with an unusual combination of mesodennal defects is presented. A striking finding was the hermation of a major portion of the large bowel into the pericardial cavity through a foramen of Morgagni defect. In addition, the patient exhibited a variety of muscular skeletal anomalies, Monckeberg sclerosis of the muscular arteries, and complete heart block. Urinary mucopolysaccharide excret...

A rare case of bilateral blepharochalasis of the upper eyelids is presented in a 10-year-old boy with several systemic abnormalities--unilateral agenesis of the left kidney, multiple skeletal anomalies of the vertebral column, and congenital heart disease with a left to right shunt. Such widespread congenital defects in association with blepharochalasis have not been described before. Blepharoc...