Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlacková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features...

BACKGROUND Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases. METHODS We performed a subtelomeric FISH analysis on 76 unrelated children with normal standard karyotype ...

This work extends previous investigations into cell interactions involved in specific morphogenetic events during the development of normal and mutant (amputated) mouse embryos. In the mutant mesenchyme, cells tend to clump together and form far more extensive areas of cell contact than are found in normal mesenchyme. This is confirmed for mutant facial mesenchyme. Facial outgrowth in the mutan...

MANDIBULO-FACIAL dysostosis is the name given by Franceschetti and Zwahlen (1944) and Franceschetti and Klein (1949) to a complex of symptoms which together comprise a congenital oro-facial syndrome (Wildervanck, 1960). Franceschetti and Klein (1949) reviewed the literature and described the typical characteristics of the syndrome as follows: (1) Antimongoloid palpebral fissures with either a n...

OBJECTIVE To evaluate the surgical results of pediatric parotid gland masses with specific attention to complications. METHODS A retrospectively review of medical records n=21 aged one to 18 years who underwent parotidectomy at Doernbecher Children's Hospital, Portland, Oregon, USA from 1993 to 2003. The exclusion criteria were as follows; age above 18 years, incision and drainage of parotid ...

BACKGROUND Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly syndrome characterised by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioural problems, and malformations of the upper extremities. Recently mutations in NIPBL, the human homologue of the Drosophila Nipped-B gene, were found to cause CdLS. Mutations have been found...

Segmental odontomaxillary dysplasia is characterized by variability of its clinical and radiological features, and may mimic other fibro-osseous lesions. We describe the case of a segmental odontomaxillary dysplasia in a 12-year-old male comprising of dermal, gingival, bony, and dental abnormalities. He presented with left midfacial diffuse hyperkeratotic erythematous lesion, ipsilateral hypopi...

As a direct and effective biometric technology that follows human life habits, facial recognition has gradually become mainstream, stable reliable method in the process of further development science technology. Facial is kind authentication based on an original biological characteristic. After collecting functions, use computer for digital image processing template matching to complete recogni...

Body abnormalities that compromise form, function or aesthetics can make an individual incapable of leading a relatively normal life. Facial disfigurement may occur as result congenital anomaly, trauma tumor surgery. The defects be rehabilitated surgically with the help prosthesis. Many situations due to size location defect because patient’s medical condition, surgical reconstruction is not po...