The diagnosis of idiopathic scoliosis is made after other known causes of the deformity have been excluded. This paper does not deal with scoliosis resulting from vertebral anomalies, nor with that associated with conditions of known genetic etiology, such as neurofibromatosis, Marfan’s syndrome or muscular dystrophy. Also, the diagnosis of idiopathic scoliosis is only made when the curve is st...

Goldenhar syndrome is a well-known condition featuring the following triad of anomalies: ocular abnormalities, microtia and vertebral anomalies. This syndrome involves structures arising from the first and second branchial arches. Craniofacial anomalies, including mandibular, zygomatic and/or maxillary hypoplasias are found in 50% of patients with Goldenhar syndrome. Patients with this syndrome...

Glycosylation is a form of post-translational modification of proteins and occurs in every living cell. The carbohydrate chains attached to the proteins serve various functions. There are two main types of protein glycosylation: N-glycosylation and O-glycosylation. In this paper, we describe the O-glycosylation process and currently known congenital disorders of glycosylation associated with de...

An 18-month-old child presented with right macrostomia, bilateral preauricular skin tags, bilateral CTEV, squint in bilateral eyes, thoracic vertebral anomalies, right sided aortic arch, and associated left pulmonary agenesis. The patient did not have any associated respiratory symptoms. Ipsilateral pulmonary agenesis is considered as a rare association with Goldenhar syndrome and a case of con...

OBJECTIVES Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a...

Congenital scoliosis is defined as a lateral deviation of the spine associated with one of a broad range of congenital vertebral malformations (CVMs) that can form during in utero development. It is distinct from other spinal deviations in which malformations do not occur and can present as an isolated spine anomaly or be associated with a large number of visceral organ and syndromic abnormalit...

A 52-year-old man presented with a 2-year-history of recurrent torticollis and headache associated with physical exertion (including evacuation). His physical examination disclosed short neck and brachycephaly. Neuroimaging studies (Figures 1 and 2) revealed basilar invagination and brainstem compression without other craniocervical junction abnormalities or systemic diseases. Basilar invaginat...

Facio-Auriculo-Vertebral (FAV) spectrum, also known as Goldenhar syndrome or first and second branchial arch syndrome, is a complex of mainly craniofacial and vertebral anomalies. Microtia is a principal malformation in this complex; it can be unilateral or bilateral. We performed an observational, retrospective, transverse descriptive clinical study, reviewing 149 records of patients with a di...

The Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in organisms as diverse as insects, nematodes, echinoderms and mammals. Disruptions in conserved developmental pathways frequently result in inherited congenital anomalies in humans. Mutations in genes encoding Notch pathway components underlie three inherited...

Introduction: Foetal spinal cord has been the focus of interest by many scientists but the information regarding lumbar enlargement received very little attention, though important for clinical applications. Morphological studies were limited to vertebral canal and spinal cord during prenatal and postnatal periods . Readings of maximum transverse diameter of lumbar enlargement of foetal spinal ...