Piebaldism is an autosomal dominant uncommon (<1 in 20,000) congenital pigmentary disorder. Depigmented patches are present since birth. They usually remain unchanged throughout life. Vitiligo is its closest differential diagnosis. We report a unique family in which these two dissimilar depigmentations, i.e. piebaldism and vitiligo (with nevus depigmentosus), were noted in two brothers. T...

Meckel's diverticulum is a common congenital disorder which may result in Gl bleeding. For definite diagnosis before surgery, radiographic procedures such as small intestine barium studies are not greatly successful; on the other hand Tc-99m-Pertechnetate imaging is a physiologic and noninvasive method with high sensitivity and specificity. In this report, three patients with rectorrhagia...

Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This ...

 Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenatal diagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (ART). In this case, the diagnosis of harlequin ichth...

Background: Urethral stricture is a narrowing of the urethra which can either be congenital or acquired. In most cases, it an acquired disorder. Congenital less common and even commonly found in paediatric population. Case presentation: A 4-Month-old baby attended outpatient department with complaint high fever excessive crying that was more pronounced before during urination along whitish disc...

Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by microcephaly, psychomotor regression, seizures and stereotypical hand movements. Recently, deletions and inactivating mutations in FOXG1, encoding a brain-specific transcription factor that is critical for forebrain development, have been found to be associated with the congenital variant of RTT. Here we report the cli...

Acquired prosopagnosia (PA) is a rare condition after, for example, a stroke or brain injury. The congenital form of PA is generally considered to be even less common. Beside a few single case reports and anecdotal mentioning of familial cases no data on the epidemiology exists. Following a questionnaire-based screening in local secondary schools and at our medical faculty, candidates suspiciou...