congenital anterior tibiofemoral subluxation is an extremely rare disorder. all reported cases accompanied by other abnormalities and syndromes. a 16-year-old high school girl referred to us with bilateral anterior tibiofemoral subluxation as the knees were extended and reduced at more than 30 degrees flexion. deformities were due to tightness of the iliotibial band and biceps femuris muscles a...

Congenital fistulas of the lip are commonly found in the lower lip and accompany cleft lip. They are seen as a symptom of Van der Woude syndrome, which is predominantly hereditary. In contrast, congenital fistulas of the upper lip are rare. A number of hypotheses have been proposed to explain the pathogenesis of fistulas of the upper lip, including fusion failure of facial prominences and absen...

Pentalogy of Cantrell is a rare entity of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. The complete pentalogy and its variants have been described in the literature. We report a 47-day-old girl with an incomplete pentalogy of Cantrell presenting with congenital absence of the sternum, congenital heart defects, and an epigastric hernia. Two even rar...

Severe congenital neutropenia (SCN) and Clostridium septicum myonecrosis is an uncommon and life-threatening association requiring urgent combined aggressive medical and surgical management. We report 2 cases of SCN (1 with known Kostmann's syndrome and 1 not known at presentation to have a congenital neutropenic disorder but subsequently received a diagnosis of cyclic neutropenia) who presente...

The heterotaxy syndrome is a rare and sporadic disorder. This syndrome presents with situs ambiguus, splenic malformations such as asplenia or polysplenia, and congenital heart disease. Congenital heart diseases associated with this syndrome include a broad variety of manifestations. Patent ductus arteriosus is one of them and percutaneous transcatheter closure can be challenging in the setting...

Holt-Oram syndrome is clinically characterized by morphological abnormalities of the upper limbs and congenital cardiac defects. Although the disease is congenital, the diagnosis may only be made later in life. It is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe the case of a 75-year-ol...

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood t...

Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puber...

Hypertrichosis in childhood is found in a variety of conditions and may be localized or generalized.' Localized hypertrichosis may be related to trauma, nevi, or spina bifida occulta. Generalized hypertrichosis can occur with a variety of metabolic, chromosomal, and congenital disorders; these include Gorlin syndrome, Cornelia de Lange syndrome, Leprechaunism, the porphyrias and mucopolysacchar...

Human hydrocephalus is a disorder of abnormality in CSF flow or resorption, which has been classified in pertinent literature as congenital and acquired. Congenital hydrocephalus can present as an isolated phenomenon which is common; or with associated anomalies affecting other organs, disturbing physiology or presenting as a syndrome. This report describes a case with congenital foetal hydroce...