Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are discussed.

One of the most common cardiovascular diseases is congenital heart disease (CHD) and adult (ACHD) or CHD in patients. The chronic effects illness, surgery, hospitalization certain stages life can have significant impacts on a patients psychology quality life. This study aims to discover relationship between psychological disorders ACHD at Integrated Heart Service Center, Dr. Soetomo General Aca...

Arteriovenous fistulas (AVF) and true aneurysms are uncommon arterial vascular disorders of the breast. The etiology can be either acquired or congenital. Coexistence of a congenital AVF and true aneurysm of internal mammary artery (IMA) branches is a very rare condition. We present a case of congenital AVF and true aneurysm of the IMA in a woman, age 56 years. To the best of our knowledge, thi...

Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Griscelli syndrome (GS). We report the case of a 2-month-old male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative disorders. The patient was delivered at 35 weeks' ge...

A 21-year-old woman presented with clinically classic signs of Ullrich congenital muscular dystrophy (figure). Genetic testing of collagen VI genes revealed a homozygous mutation c.2329T.C, p.Cys777Arg in the COL6A2 gene, consistent with the clinical diagnosis. Collagen type VI–related disorders represent a spectrum of overlapping phenotypes: Bethlem myopathy at the milder end, and Ullrich cong...

Abstract: Background: Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal dysplasia. EVC presents several skeletal manifestations and congenital heart malformations. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome alteration in the mechanical proper...

This article presents an approach for identification of infants with congenital heart disorders. These disorders are difficult to diagnose because of the complexity and variety of cardiac malformations; additionally presentation can be complicated by age-dependent physiology. By compiling data from the history and the physical examination, the emergency physician can identify lesion category an...

Visit our website at: http://pituitary.mgh.harvard.edu On magnetic resonance imaging, some patients with clinical neuroendocrine disorders have thickened pituitary stalks, the anatomical structure which connects the hypothalamus to the pituitary (Figure 1). These disorders can be classified as neoplastic, inflammatory, or infectious in origin, although there are rare forms of congenital malform...

Improvements in the diagnosis and treatment of congenital disorders have resulted in a change in surgical practice. Many conditions that formerly required corrective surgery immediately after birth are no longer surgical emergencies. Most babies with congenital anomalies that can be corrected by surgery are now stabilized and optimized before the procedure. This article focused on the more comm...

Background Patent ductus arteriosus is a common congenital disorder (10% of congenital disorders). Ductus Botalli closure is the realm of invasive cardiology. Inability to perform ductus Botalli closure with percutaneous methods causes, that administration of indomethacin or surgery are nowadays treatment of choice. The aim is to present an alternative in treatment with minimally invasive surge...