Partial anomalous pulmonary venous return (PAPVR) is a congenital anomaly in which one or more, but not all, of the pulmonary veins are connected to a systemic vein or to the right atrium directly. Its incidence is higher in autopsy series than in clinical series. We report 51 cases of PAPVR diagnosed by cardiac catheterization and evaluated from the aspects of age, sex, type and associated ano...

The Klippel-Trenaunay Syndrome is a triad of congenital anomalies characterized by a vascular naevus, varicose veins and hypertrophy of soft tissue and bone. A number of patients affected with this rare syndrome need amputation. In this paper the systemic problems, stump complications and prosthetic difficulties of four amputees with Klippel-Trenaunay syndrome are outlined. The period of follow...

We report a case of a newborn infant whose mother had systemic lupus erythematosus (SLE) diagnosed before pregnancy. The child had clinical manifestations of neonatal lupus as well as chondrodysplasia punctata and other findings that resemble the congenital anomalies associated with the use of oral anticoagulants, with no history of exposure. We speculate that the combined action of the differe...

Introduction Pulmonary involvement occurs in up to 80% of Systemic Lupus Erythematosus (SLE) patients, with decreased diffusing capacity (DLCO) and interstitial lung disease being most common. Shrinking lung syndrome (SLS) is a rare complication, which consists in small lung volumes, elevation of the diaphragm and restrictive physiology without parenchymal or pleural involvement. Its pathogenes...

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...

Epidermal nevi are congenital hamartomas of embryonal ectodermal origin classified on the basis of their main component. The compone keratinocytic. An estimated 1/3 of individuals with epidermal nevi have involvement of other organ systems; hence this condition is considered to be epidermal nevus syndrome. Solomon defined epidermal nevus syndrome as a sporadic neuro in the skin, brain, eyes and...

The case of a 5-month-old black female child with a linear sebaceous naevus syndrome and multiple congenital anomalies is presented. Ocular malformations consisted of colobomatous changes of the lid and retina, dermoid of the conjunctiva, chorioretinal changes, and peripapillary atrophy of the optic nerve. Systemic findings included midline cleft of the secondary palate with involvement by the ...

A 52-year-old man presented with a 2-year-history of recurrent torticollis and headache associated with physical exertion (including evacuation). His physical examination disclosed short neck and brachycephaly. Neuroimaging studies (Figures 1 and 2) revealed basilar invagination and brainstem compression without other craniocervical junction abnormalities or systemic diseases. Basilar invaginat...

BACKGROUND Diphallus is a rare anomaly and accompanying anomalies vary from bifid scrotum, bladder exstrophy, imperforate anus and colo-rectal anomaly such as duplication, and other associated anomalies. CASE PRESENTATION A 2-day old infant is reported with imperforate anus and complete duplication of recto-sigmoid colon, rectal pouch, doubling of the genitalia with completely formed penis (d...

The simultaneous occurrence of various multiple dental anomalies has been reported previously, particularly in cases of chromosomal abnormalities that often manifest with multisystem involvement.' 2 Additionally, multiple dental anomalies have been reported in individuals and within families, without evidence of other systemic manifestations. Ekman-Westborg and Julin reported a case of macrodon...