Camptodactyly and DiGeorge syndrome: A rare hand anomaly

Digeorge syndrome presenting with uncommon cardiac anomaly and hepatomegaly

Digeorge syndrome is caused by microdeletion of a large region of chromosome 22q11.2 lead to the abnormal development of the third and fourth pharyngeal pouches. This syndrome is characterized by hypoparathyroidism, cellular immune deficiency secondary to thymic hypoplasia, congenital heart disease and dysmorphic facial features. In this case report, we describe a 4month old boy who presented w...

DiGeorge Syndrome: a not so rare disease

INTRODUCTION The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known a...

A new camptodactyly syndrome.

Baller-Gerold Syndrome a Rare Cause of Heart-Hand Syndrome

Heart hand syndromes are characterized by radial abnormalities and associated defects in the heart. We here describe an extremely rare heart hand syndrome known as Baller-Gerold syndrome.

Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowle...