Moebius syndrome is a rare nonprogressive congenital neurological disorder with a wide range of severity and variability of symptoms. This diversity is a consequence of dysfunction of different cranial nerves (most often facial and abducens nerves), accompanying orofacial abnormalities, musculoskeletal malformations, congenital cardiac diseases, as well as specific associations of Moebius and o...

Background Congenital factor VII (FVII) deficiency is a rare autosomal recessive coagulation disorder that is characterized by prolongation of prothrombin time. Recombinant activated FVII (rFVIIa) is widely used in the management of bleeding in patients with congenital FVII deficiency. We experienced anesthetic management of a patient with congenital FVII deficiency who was scheduled for laparo...

Introduction: Hypothyroidism is widely prevalent in pregnant women and the rate of detection, especially on a developing country like India, has not kept pace with magnitude problem (1).Since hypothyroidism easily treated, timely detection treatment disorder could reduce burden adverse fetal maternal outcomes, which are very commonly encountered (1).Congenital can be caused due to thyroid dysge...

Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. ...

Congenital spherocytic anemia is a common disorder. but in most cases the nature of the underlying membrane lesion is unknown and the genetic defect has not yet been unequivocally mapped to a chromosome. We studied two dysmorphic siblings with neurologic findings and hemolytic anemia. Clinical and laboratory findings in these two siblings were consistent with the diagnosis of congenital spheroc...

Cutis laxa (CL) is a rare congenital and acquired disorder characterized by loose and redundant skin with reduced elasticity. Three types of congenital cutis laxa have been recognized. Other findings are pulmonary emphysema, bronchiectasia, hernia and diverticulosis. We describe a female neonate involved by cutis laxa syndrome and a positive family history. We focus on the radiologic findings o...

Background Ebstein’s anomaly is a rare congenital heart disorder (1 per 200,000 live births), accounting for about 0.3 to 0.7% of all cases of congenital heart disease. The condition is characterized by tricuspid valve abnormality with apical displacement of the septal and posterior leaflets from the atrioventricular annulus into the right ventricle, leading to the ‘atrialization’ of a portion ...

Berardinelli-Seip congenital generalised lipodystrophy (BSCGL) is an extremely rare autosomal recessive disorder characterised by congenital absence of functional adipocytes causing lipoatrophy, dyslipidemia and fat maldistribution [1]. Fat deposited in liver, heart and muscle result in stetosis-induced cirrhosis, cardiac failure, insulin resistance and diabetes mellitus. We report two addition...

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disorder caused by a defect in the chloride/ bicarbonate exchange in the ileum and colon. It is characterized by watery diarrhea, abdominal distension, hypochloremic hypokalemic metabolic alkalosis with high fecal content of chloride (>90 mmol/l). We report 3 patients with CLD associated with various renal abnormalities including ...

Congenital Hypothyroidism (CH) is a common preventable cause of mental retardation. The incidence CH 1 in 2500 to 3000 newborns. Most causes are thyroid dysgenesis and dyshormonogenesis. Some disorder like maternal autoantibodies, intake anti medication, iodine deficiency or excess can result transient CH. Common symptoms include decreased activity increased sleep, feeding difficulty, constipat...