ABSTRACT
OBJECTIVE: Pierre Robin sequence (PRS) is a congenital malformation in which micrognathia causes retroposition of the tongue. This results in feeding and breathing difficulties that can lead to severe complications. If conservative treatment is not sufficient, a surgical procedure such as a tongue-lip adhesion can be performed. The objective of this study was to evaluate our benefits and complications with this operation. SETTING: All patients under the care of the Department of Plastic and Reconstructive Surgery of the VU University Medical Center, Amsterdam, The Netherlands, in the period 1993 to 2002. PATIENTS: A consecutive series of 22 patients who needed operative intervention for PRS. All underwent a tongue-lip adhesion. METHODS: Retrospective analysis of the patient charts. Follow-up has been performed for a minimum of 1 year. RESULTS: In 16 (73%) of the patients operated on, feeding and breathing have improved. In 6 children, the results were limited because of concomitant congenital anomalies. Complications, all without lasting effect, were observed in 12 (55%) of the patients: 4 of 5 children with dehiscence of the adhesion needed reoperation, 6 developed small chin abscess that resolved after removal of the supporting suture, and 1 patient was reintubated for bronchospasm. CONCLUSIONS: Tongue-lip adhesion is a good surgical treatment for most children with PRS who have an isolated tongue-base airway obstruction. More invasive procedures such as mandibular distraction can be reserved for patients where a tongue-lip adhesion has not been successful.
Subject(s)
Lip/surgery , Pierre Robin Syndrome/surgery , Tongue/surgery , Abscess/etiology , Airway Obstruction/surgery , Bronchial Spasm/etiology , Chin/surgery , Eating/physiology , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Male , Micrognathism/diagnosis , Pierre Robin Syndrome/diagnosis , Polysomnography , Postoperative Complications , Reoperation , Respiration , Retrospective Studies , Surgical Flaps , Surgical Wound Dehiscence/etiology , Suture Techniques , Sutures/adverse effectsABSTRACT
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the hallmark of the disorder. Importantly, one-third had fast-flow vascular lesions. Among them, we observed severe intracranial AVMs, including vein of Galen aneurysmal malformation, which were symptomatic at birth or during infancy, extracranial AVM of the face and extremities, and Parkes Weber syndrome (PKWS), previously considered sporadic and nongenetic. These fast-flow lesions can be differed from the other two genetic AVMs seen in hereditary hemorrhagic telangiectasia (HHT) and in phosphatase and tensin homolog (PTEN) hamartomatous tumor syndrome. Finally, some CM-AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2. This is the first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity.
