A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition the atrial appendages associated with tricuspid atresia, double outlet infundibulum, subvalvar pulmonary large secundum septal defect, and right aortic arch mirror-image branching, consistent developmental arrest early heart looping. To best our knowledge, no previous 2q37 deleti...

Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21) and results in a suite of dysmorphic phenotypes, including effects on the postcranial skeleton and the skull. We have previously demonstrated parallels in the patterns of craniofacial dysmorphology in DS and in the Ts65Dn mouse model for DS. The specific mechanisms underlying the production of these changes in craniofacial s...

Dysmorphology is the branch of clinical genetics in which clinicians and researchers study and attempt to interpret the patterns of human growth and structural defects. Reaching an accurate diagnosis for children with dysmorphic signs is important to their families, because it makes available all the accumulated knowledge about the relevant condition and may provide the family with the opportun...

Amphibian studies have implicated Wnt signaling in the regulation of mesoderm formation, although direct evidence is lacking. We have characterized the expression of 12 mammalian Wnt-genes, identifying three that are expressed during gastrulation. Only one of these, Wnt-3a, is expressed extensively in cells fated to give rise to embryonic mesoderm, at egg cylinder stages. A likely null allele o...

Method: The study included all neonates with congenital anomalies referred to Asir Central Hospital from 1997 to 2002. Cases with genetic syndromes were diagnosed by review of Mandelian inheritance in man and the London dysmorphology database. The major congenital anomalies were classified according to the ICD-10 system, and multiple MCAs were counted only once by the system of the most major a...

Treacher Collins syndrome: abnormal first branchial arch development giving rise to malar and mandibular hypoplasia with external ear malformations. Dysmorphology is the study of malformations arising from abnormal embryogenesis. Recognition of patterns of multiple congenital malformations may allow inferences to be made about the timing, mechanism, and aetiology of structural defects. Animal r...