Craniofacial anomalies are among the most common birth defects and are associated with increased mortality and, in many cases, the need for lifelong treatment. Over the past few decades, dramatic advances in the surgical and medical care of these patients have led to marked improvements in patient outcomes. However, none of the treatments currently in clinical use address the underlying molecul...

Resonance disorders can be caused by a variety of structural abnormalities in the resonating chambers for speech, or by velopharyngeal dysfunction. These abnormalities may result in hypernasality, hypoor denasality, or cul-de-sac resonance. Resonance disorders are commonly seen in patients with craniofacial anomalies, particularly a history of cleft palate. The appropriate evaluation of a reson...

To recognize and make the proper diagnosis of a craniofacial abnormality, it is helpful for the pediatrician to understand the normal embryology, morphologic variations, and the characteristics, types, and timings of defects that can occur. It is important that pediatricians and other caregivers of infants and young children be able to recognize the common cranial abnormalities so that the fami...

The human BARX2 gene encodes a homeodomain-containing protein of 254 amino acids, which binds optimally to the DNA consensus sequence YYTAATGRTTTTY. BARX2 is highly expressed in adult salivary gland and is expressed at lower levels in other tissues, including mammary gland, kidney, and placenta. The BARX2 gene consists of four exons, and is located on human chromosome 11q25. This chromosomal lo...

Goldenhar syndrome (Oculo-Auriculo-Vertebral Spectrum) (OAVS) is a rare congenital condition characterized by craniofacial abnormalities associated with anomalies of the spine, heart, kidney, central nervous and gastrointestinal system. Craniofacial abnormalities include the incomplete development of the eye, ear, nose, soft palate, lips and jaw. We report a case of Goldenhar syndrome in a 14-y...

Diamond-Blackfan anaemia is a rare disease caused by insufficient expression of ribosomal proteins and is characterized by erythroid hypoplasia often accompanied by growth retardation, congenital craniofacial and limb abnormalities. In addition, Diamond-Blackfan anaemia patients also exhibit a number of behavioural abnormalities. In this study we describe the behavioural effects observed in a n...

In a large-scale screen for mutations affecting embryogenesis in zebrafish, we identified 48 mutations in 34 genetic loci specifically affecting craniofacial development. Mutants were analyzed for abnormalities in the cartilaginous head skeleton. Further, the expression of marker genes was studied to investigate potential abnormalities in mutant rhombencephalon, neural crest, and pharyngeal end...

Primary clinical features Retinitis pigmentosa (rod-cone dystrophy) Obesity Polydactyly Hypogonadism Intellectual disability/cognitive impairment Renal abnormalities Secondary clinical features Diabetes mellitus type II Cardiovascular problems Hearing loss Speech deficiency Behavioral problems Craniofacial dysmorphism Short stature Hepatic involvement Eye abnormalities Ataxia Dental and palatal...