You searched for "congenital"

208 results found

Ablepharon-macrostomia syndrome

The ablepharon-macrostomia syndrome is a very rare condition caused by a dominant mutation in the TWIST2 gene. Congenital defects include rudimentary eyelids, macrostomia, ambiguous genitalia and campodactyly. Neonates are at risk of severe corneal exposure without intervention. Previous reports have...

OCT imaging of occluded puncta

This is a description of the use of enhanced depth optical coherence tomography (OCT) to see whether a patent ampulla or canaliculus is detectable in patients with absent or occluded puncta. Nine occluded puncta of six patients with epiphora were...

Marcus-Gunn jaw winking without ptosis

This is a review of 72 cases of Marcus-Gunn jaw winking syndrome. The authors reviewed all their congenital ptoses seen over a 16-year period and found 72 Marcus-Gunn cases out of a total of 848 patients. Within the 72 they...

All about velopharyngeal dysfunction

The velopharynx functionally separates the oral from the nasal cavities. Inadequate or abnormal function of this muscular valve affects speech and swallow. Velopharyngeal dysfunction can be subdivided into insufficiency, incompetence and mislearning. This is a review paper and indeed a...

Labbé in children

This is the first report in the literature of orthodromic temporalis tendon transfer or the Labbé technique performed on children. The authors used a modification of the transoral approach to the temporalis tendon, originally described by Byrne and Boahene, which...

Repair of the supernumerary nostril

The supernumerary nostril is a rare challenge, first reported by Lindsay in 1906. It has been suggested that they may develop from an accessory nasal pit or from a fissure in the lateral nasal process to create a double nostril....

Follow-up interview with Mr Miles Berry Consultant Plastic and Aesthetic Surgeon

The editor’s clarification Andrew Burd: Miles, many thanks indeed for giving the interview that appeared in the first issue of PMFA News (see PMFA News 1(1):24). I read this with great interest as some very topical and sensitive issues were...

Staying in touch

Although I am retired, I still receive the British Medical Journal every week and feel slightly guilty if I do not at least tear off the plastic cover before I throw it into the recycle bin... By taking off the...

Plastic Surgery Volume 6: Hand and Upper Extremity

This is the last of this six-volume textbook, which provides an almost comprehensive coverage of the entire spectrum of hand and upper limb conditions. This remains a formidable task, as evidenced by other more extensive hand surgery textbooks that are...

Total lower lip reconstruction: a review

Total or near total defects of the lower lip may result from trauma, cancer ablation or congenital causes. Defects usually involve the full thickness and include skin, muscle and mucosa. There are a number of techniques for the one stage...

Facial asymmetry and nasal septal deviation

The authors’ aim was to evaluate the relationship between nasal septal deviation and facial asymmetry. They performed a study of 60 patients who had facial 3D CT scans from April 2011 to March 2014 and confirmed facial asymmetry, who were...

Total lower lip reconstruction

Total or near total defects of the lower lip may result from trauma, cancer ablation or congenital causes. Defects usually involve the full thickness and include skin, muscle and mucosa. There are a number of techniques for the one stage...