Cranial neural crest cells (CNCCs) delaminate from embryonic neural folds and migrate to pharyngeal arches, which give rise to most mid-facial structures. CNCC dysfunction plays a prominent role in the etiology of orofacial clefts, a frequent birth malformation. Heterozygous mutations in SPECC1L have been identified in patients with atypical and syndromic clefts. Here, we report that in SPECC1L...

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...

Orofacial clefts are one of the commonest birth defects, and may be associated with other congenital anomalies. The majority of these orofacial clefts are nonsyndromic . A significant percentage of these clefts both syndromic and non-syndromic may have associated anomalies. Apart from reviewing other studies, this article also analyses a study of associated anomalies from a tertiary cleft centr...

irst branchial cleft anomalies account for 8--10%1,2 of all ranchial cleft defects, representing approximately 17% of ll pediatric cervical masses. The low incidence and the arious clinical presentations of these congenital malformaions of the branchial apparatus make the diagnosis difficult ven for the experimented otolaryngologist. Depending on he type of the anomaly (fistula, sinus or cyst),...

A 15-year-old girl presented with a cystic swelling since birth behind the ramus of the right mandible and diagnosed clinically as a dermoid cyst. Surgical exploration, however, showed that it was closely related to the external auditory canal, with an extension running medially behind the parotid gland and ending in the bony middle ear. The facial nerve was closely related to the deep part of ...

introduction: a cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. this study explored the risk factors for oral clefts in gorgan, northern iran.  materials and methods: this hospital-based case-control study was performed in three hospitals in gorgan, northern iran between april 2006 and december 2009. the case group contained 33 newborns wi...

M yocardial clefts are a recently described finding and are increasingly noted with the growing use of cardiac MRI. We describe a patient with multiple myocardial clefts on MRI. Case A 45-year-old man came for cardiac screening evaluation because of an abnormal ECG. He had undergone occupational health screening 8 years previously and had been noted to have T-wave inversion from V2 to V4. He ha...