Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.

Congenital afibrinogenemia is a very rare inherited coagulation disorder, characterized by virtual absence of plasma fibrinogen (factor I). There are only about 250 cases reported in the world literature 1. We describe a case of congenital afibrinogenemia which presented as an antenatally detected intracranial bleed.

The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder. We report one family with popliteal pterygium syndrome affecting father and his two daughters, who underwent surgical corrections for multiple congenital malformations.

Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants with ARPKD is rare. Here, we present a case of a two month old boy who was diagnosed with Caroli's syndrome and ARPKD.

Cutis laxa (CL) is a rare connective tissue disorder characterized by phenotypic appearance of loose and redundant skin. CL can be congenital or acquired. Congenital forms include autosomal dominant, autosomal recessive and X-linked recessive. Apart from cutaneous abnormalities, CL can present with visceral involvement. In this article, we report a case of CL presenting as recurrent ileus.

Congenital lobar emphysema is a rare disorder thay may present outside the newborn period. It is generally best treated surgically by excision of the affected lobe. We describe a 6 1/2-week-old infant in whom the initial auscultatory and roentgenographic findings were confusing and of no help in making the diagnosis. The etiology of congenital lobar emphysema remains unclear.

Congenital afibrinogenaemia is a rare genetic disorder transmitted as an autosomal recessive trait and characterized by the complete absence of fibrinogen in the plasma. We report a 41-year-old woman who suffered from congenital afibrinogenaemia and hepatitis C viral infection and presented with ischaemic necrosis and livedo of the toes. Laboratory investigations showed the presence of mixed cr...

Encephalocraniocutaneous lipomatosis (ECCL) is a congenital hamartomatous disorder characterised by unilateral skin lesions, lipomas, and ipsilateral ophthamological and cerebral malformations. The disorder is thought to represent a localised form of Proteus syndrome. In this report, a child is described with ECCL and a de novo nonsense mutation in exon 29 (S1745X) of the neurofibromatosis type...

Congenital hepatic fibrosis (CHF) is a developmental disorder of the biliary system, characterized by defective remodeling of the ductal plate. Herein a family of three children, from consanguineous parents, with minor thalassemia is presented who suffered from congenital hepatic fibrosis (CHF). Prompt diagnosis and appropriate treatment are necessary to avoid further complications in the affec...

Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies.