A newborn infant presenting with a divided congenital melanocytic naevus of the eyelid is described. Because of the severe disfigurement, risk of later malignant change in the lesion, and the possibility of deprivation amblyopia, early surgical treatment is recommended for all medium and large congenital melanocytic naevi of the eyelid. Surgery in the first few months of life gives the best cos...

An infant girl with arachnodactyly, spontaneously resolving contractures, dolichostenomelia, iridodonesis, and mitral and tricuspid incompetence died in cardiac failure. We confirm that congenital contractural arachnodactyly may exhibit serious cardiovascular and ophthalmic complications like Marfan's syndrome. The presence of iridodonesis further obscures the differentiation between classical ...

Objective Describe a case of congenital acinar dysplasia and review the literature. Study Design Retrospective chart review and literature search. Results Congenital acinar dysplasia is a rare malformation of growth arrest of the lower respiratory tract resulting in critical respiratory insufficiency at birth. It is a form of pulmonary hypoplasia that is characterized by diffuse maldevelopment ...

BACKGROUND A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders. We describe here the case of an infant with a novel mutation of the NKX2.1 gene characterized by mild clinical presentation. Aim of the study was to elucidate the genotype-phenotype correlation in ou...

Congenital syphilis is a severe, disabling infection often with grave consequences seen in infants. It occurs due to the transmission of the disease from an infected mother to the unborn infant through the placenta. Congenital syphilis can involve any organ system and present with various symptoms. However, early diagnosis of congenital syphilis is difficult because more than half of the affect...

BACKGROUND Aphakic glaucoma is a common complication after congenital cataract extraction, especially in those who have surgery during infancy. This case report describes a case of bilateral pupillary block glaucoma diagnosed with intraoperative ultrasound biomicroscopy (UBM) after removal of congenital cataract. CASE PRESENTATION We present a case report of a 9-month-old infant with bilatera...

During 2019, 1,870 cases of congenital syphilis were reported by the Centers for Disease Control and Prevention (CDC). Diagnosis treatment in mothers newborns is dependent on post-treatment surveillance via serology up to 15 months ensure absence infection. The objective this study was determine demographic, socioeconomic, obstetric neonatal risk factors associated with gaps adherence recommend...

A report is presented of a 45 day old female infant with congenital amputation of the great toe, complete constriction bands of the lower leg and fingers all of which are explained by congenital amniotic band syndrome. There is a brief review of the literature on the pathology and possible aetiology.

Most hemivertebrae eventually lead to congenital scoliosis. We describe an infant with an asymptomatic hemivertebra that occurred as part of a VACTERL syndrome. The effects of hemivertebrae, incidence, detection, risks, treatment and prognosis of congenital scoliosis, are outlined. Competing Interests: None

Congenital abduction deficit is most likely due to Duane's retraction syndrome as congenital abducens nerve palsy is very rare. We report two cases of infantile abduction deficit due to sixth nerve palsy associated with other anomalies to highlight the importance of including neuroimaging in the evaluation of an infant presenting with a limitation of abduction.