Synchondrosis is defined as the development of a union between two bones by the formation of either hyaline cartilage or fibro-cartilage. This paper reviews the relationship between cranial base synchondroses and craniofacial development. The cranial base synchondroses are important growth centers of the craniofacial skeleton. Their abnormalities lead to numerous growth and developmental condit...

(i) Retinoids and embryopathy Comments focussed primarily on the differential teratogenicity of the various retinoids used experimentally and on the dose levels concerned. Dr Johnston raised the issue of retinoid blood levels following application of retinol to embryos. Studies by Kochhar in the seventies using radiolabelled retinol showed that the blood levels went up to a high peak following ...

Airway management for patients with craniofacial disorders poses many challenges. The anaesthesiologist must be familiar with the normal bony and soft-tissue anatomy in the airway and how anatomy is altered by various congenital disorders. Specific areas to assess include the oral cavity, anterior mandibular space, maxilla, temporomandibular joint and vertebral column. Congenital conditions tha...

UNLABELLED OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along w...

It is estimated that hereditary hearing loss accounts for 60% of deafness in the developed countries. About 30% of hereditary hearing impairment is syndromic which involves other presenting abnormalities along with deafness. There are more than 400 syndromes which include various degrees of hearing impairment with different phenotypes. (Barlow Stewart et al., 2007; Berrettini et al., 2008). Abn...

Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...

Thalassemia is a group of inherited diseases with a defect in the synthesis of hemoglobin. Severe thalassemic subjects suffer from craniofacial deformities and malocclusion due to bone marrow hyperplasia compensating for ineffective erythropoiesis. Blood transfusions are used to maintain life and reduce complications. The transfusions may have benefits in reducing craniofacial and dentition abn...

HGPS is a rare syndrome of segmental premature aging. Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. Using The Progeria Research Foundation Medical and Research Database, 98 imaging studies on 25 patients, birth to 14.1 years of age, were comprehensively reviewed. Eight newly identified abnormalities involving the...

PURPOSE To analyze the skull and brain malformations in patients with craniofacial syndromes. METHODS A retrospective analysis of imaging studies of 21 children with craniofacial anomalies (8 with Apert syndrome, 6 with Pfeiffer syndrome, 4 with Crouzon syndrome, 1 with Robert syndrome, 1 with Coffin-Lowry-syndrome, and 1 with Saethre-Chotzen syndrome) was carried out using CT (21 patients), ...

OBJECTIVE To analyze the presence of Joint Committee on Infant Hearing (JCIH) risk factors and co-occurring birth defects (CBDs) in children with unilateral hearing loss (UHL). DESIGN Retrospective review. SETTING Statewide registry of universal newborn hearing screen data for all children born in Virginia from 2002 through 2008. PATIENTS The study population comprised 371 children with c...