Holoprosencephaly (HPE) is a defect of embryonic forebrain resulting from failure of growth and segmentation of the anterior end of the neural tube. It has been classified into 4 types based on the severity of associated brain and facial malformations. The most severe variety called alobar HPE is generally associated with major cranio-facial anomalies such as cyclopia, ethmocephaly, cebocephaly...

Numerous anomalies and variations of facial nerve anatomy leading to iatrogenic injury are described. However, there are no reports of facial nerve dehiscence near its second genu causing a hump and obstructing middle ear ventilation pathway, as found in our case. This particular anomaly of facial nerve is being reported to highlight its uniqueness and that a dehiscent facial nerve may be a rar...

INTRODUCTION Despite its high incidence and severe morbidity, the physiopathogenesis of adolescent idiopathic scoliosis (AIS) is still unknown. Here, we looked for early anomalies in AIS which are likely to be the cause of spinal deformity and could also be targeted by early treatments. We focused on the vestibular system, which is suspected of acting in AIS pathogenesis and which exhibits an e...

We describe a new familial case of ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) in a woman of 29 years and in her brother of 30 years. The proband showed mental retardation, facial anomalies, recurrent respiratory infections, combined deficit of IgM and IgE immunoglobulin classes, and paracentromeric heterochromatin instability of chromosomes 1, 9, and 16. The brot...

Anomalous facial nerve (FN) course can be found in a significant number of cases with aural anomalies. The most common anomaly of the FN involves the tympanic portion overlying the oval window.1--3 Facial canal dehiscence of the tympanic portion may be responsible for the anomalous course of FN over the oval window. The incidence of facial canal dehiscence found during otologic surgery is relat...

The case of a 2-month-old female infant with PHACES syndrome is reported. PHACES represents a broad spectrum of congenital anomalies, including the following primary features: posterior fossa brain malformations, large facial hemangiomas, arterial anomalies, cardiac defects and aortic coarctation, eye abnormalities, and ventral developmental defects. The literature on this rare condition is rev...

Pentalogy of Cantrell is a syndrome that consists of five anomalies: a midline, upper abdominal wall abnormality; lower sternal defect; anterior diaphragmatic defect; diaphragmatic pericardial defect, and congenital abnormalities of the heart. The pathogenesis of this condition is not fully known yet, associations are common with this condition and treatment is extremely challenging. Prognosis ...

Williams Syndrome is a rare genetic disorder caused by a hemizygote micro-deletion mapped to the long arm of chromosome 7.The main symptoms are a distinctive facial appearance, psychomotor retardation with friendly behaviour and cardiovascular malformations. This case report describes the anomalies of the cranio-facial complex and the cephalometric aspects which are characteristic of this syndr...

INTRODUCTION Hypogonadotropic hypogonadism (HH) is a heterogeneous disease caused by mutations in several genes. Based on the presence of hyposmia/anosmia it is distinguished into Kallmann syndrome (KS) and isolated HH. The prevalence of other developmental anomalies is not well established. METHODS We studied 36 patients with HH (31 males, 5 females, mean age 41.5), 9 with familial and 27 wi...