We report on the presence of craniosynostosis in four patients with the 22q11.2 deletion. In light of previous reports of the association, we propose that the occurrence is higher than the general population incidence. Therefore, we suggest that craniosynostosis should be considered a manifestation of the 22q11.2 deletion and conversely that the 22q11.2 deletion should be considered in the differential diagnosis of craniosynostosis. © 2005 Wiley-Liss, Inc.

Findings associated with the 22q11.2 deletion often include congenital heart malformations, palatal anomalies, immunodeficiency, hypocalcemia, and developmental delay or learning disabilities. Often the clinical suspicion of the diagnosis in a patient with one or more of these findings is heightened based on the presence of a characteristic facial appearance. In our large cohort of 370 patients with the 22q11.2 deletion, we report the under‐representation of African‐Americans in our group, as well as, the paucity of craniofacial dysmorphism in these patients. We note that the absence of the typical facial features may result in decreased ascertainment in this population and, furthermore, may delay the implementation of palliative care, cognitive remediation, and recurrence risk counseling. We, therefore, suggest that the clinician's threshold of suspicion should be lower in African‐American patients. © 2005 Wiley‐Liss, Inc.

Rate of Body Dysmorphic Disorder Among Patients Seeking Facial Plastic Surgery Canice E Crerand, PhD, , , PhD David B Sarwer, PhD, , , PhD Leanne Magee, BA, , , BA Lauren M Gibbons, BA, , , BA Michael R Lowe, PhD, , , PhD Scott P Bartlett, MD, , , MD Daniel G Becker, MD, , , MD Paul M Glat, MD, , , MD Donato LaRossa, MD, , , MD David W Low, MD, , and , MD Linton A Whitaker, MD, , MD Canice E Crerand, PhD , David B Sarwer, PhD , Leanne Magee, BA , Lauren M Gibbons, BA , Michael R Lowe, PhD , Scott P Bartlett, MD , Daniel G Becker, MD , Paul M Glat, MD , Donato LaRossa, MD , David W Low, MD , and Linton A Whitaker, MD Psychiatric Annals, 2013;34(12):958–965Published Online:December 01, 2004https://doi.org/10.3928/0048-5713-20041201-19Cited by:45View Full TextPDF ToolsAdd to favoritesDownload CitationsTrack Citations ShareShare onFacebookTwitterLinkedInRedditEmail SectionsMore1. Phillips KA, Diaz S. Gender differences in body dysmorphic disorder. J Nerv Ment Dis. 1997;185(9):570-577. Google Scholar2. Phillips KA, Grant JE, Siniscalchi J, Albertini RS. Surgical and non-psychiatric medical treatment of patients with body dysmorphic disorder. Psvchosomatics. 2001;42(6):504-510. Google Scholar3. Veale D, Boocock A, Gournay K, et al. Body dysrflorphic disorder. A survey of fifty cases. Br J Psychiatry. 1996;169(2):196-201. Google Scholar4. Phillips KA, McElroy SL, Keck PE Jr, Pope HG Jr, Hudson JI. Body dysinorphic disorder: 30 cases of imagined ugliness. Am J Psychiatry, 1993;150(2):302-308. Google Scholar5. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed [text revision]. Washington, DC: American Psychiatric Publishing; 2000. Google Scholar6. Faravelli C, Salvatori S, Galassi F, et al. Epidemiology of somatoform disorders: a community survey in Florence. Sac Psychiatry Psychiatr Epidemiol. 1997:32(1):24-29. Google Scholar7. Otto MW, Wilhelm S, Cohen LS, Harlow BL. Prevalence of body dysmorphic disorder in a community sample of women. Am J Psychiatry. 2001;158(12):2061-2063. Google Scholar8. Bohne A, Keulhen NJ, Wilhelm S, Deckersbach T, Jenike MA. Prevalence of symptoms of body dysmorphic disorder and its correlates: a cross-cultural comparison. Psychosomatics, 2002;43(6):486-490. Google Scholar9. Bohne A, Wilhelm S, Keuthen NJ, et al. Prevalence of body dysmorphic disorder in a German college student sample. Psychiatry Res. 2002;109(1):101-104. Google Scholar10. Cansever A, Uzun O, Donmez E, Ozsahin A. The prevalence and clinical features of body dysmorphic disorder in college students: a study in a Turkish sample. Cpmpr Psychiatry. 2003;44(1):60-64. Google Scholar11. Sarwer DB, Cash TF, Magee L, et al. Female college students and cosmetic surgery: an investigation of experiences, attitudes, and body image. Plastic and Reconstructive Surgery. In press. Google Scholar12. Aouizerate B, Pujol H, Grabet D, et al. 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Of the 261 nonsyndromic patients we studied, over 90% had minimal or absent hypernasality, almost 86% had inconsistent or no nasal emission, and 95% had no articulation errors related to velar function. The patients with a Pittsburgh score indicating an incompetent velopharyngeal mechanism comprised only about 6% of the group. Ninety-four percent had a socially functional speech quality. Secondary surgery was done in 6.5% of patients and was done or was recommended in about 8% of patients. Patients with isolated cleft palate seemed to do less well, although their outcomes were not statistically different from those with complete unilateral and bilateral clefts. Relaxing incisions have kept our fistula rate to an acceptably low rate of 6.8%. No major soft palate dehiscences or hard palate flap losses have occurred. The speech outcomes we are achieving are improved over our historical results and compared with published reports using nondouble reversing z-palatoplasty techniques. Similar outcomes with the Furlow repair have been confirmed. Maxillary growth, occlusion, and the need for orthognathic surgery do not seem to be influenced by the CHOP modification of the Furlow double-opposing z-palatoplasty. These modifications facilitate a tension free-closure and a low fistula rate.

This study investigated the body image concerns of women who sought cosmetic breast augmentation. Thirty breast augmentation candidates completed several measures of body image before their initial surgical consultation. Thirty physically similar women who were not interested in breast augmentation were recruited from the medical center and university community and also completed the measures. Breast augmentation candidates, as compared with women not seeking augmentation, reported greater dissatisfaction with their breasts. Augmentation candidates rated their ideal breast size, as well as the breast size preferred by women, as significantly larger than did controls. In addition, women interested in breast augmentation reported greater investment in their appearance, greater distress about their appearance in a variety of situations, and more frequent teasing about their appearance. Finally, breast augmentation candidates also reported more frequent use of psychotherapy in the year before the operation as compared with women not seeking augmentation. These results replicate and extend previous studies of body image in cosmetic surgery patients.

Juvenile gigantomastia is a benign disorder of the breast in which one or both of the breasts undergo a massive increase in size during adolescence. The authors present a series of four cases of juvenile gigantomastia, advances in endocrine management, and the results of surgical therapy. Three patients were treated for initial management of juvenile gigantomastia and one patient was evaluated for a gestationally induced recurrence of juvenile gigantomastia. The three women who presented for initial management had a complete evaluation to rule out other etiologies of breast enlargement. Endocrine therapy was used in 2 patients, one successfully. A 17-year-old girl had unilateral hypertrophy treated with reduction surgery. She had no recurrence and did not require additional surgery. Two patients, ages 10 and 12 years, were treated at a young age with reduction mammaplasty, and both of these girls required secondary surgery for treatment. One patient underwent subtotal mastectomy with implant reconstruction but required two subsequent operations for removal of recurrent hypertrophic breast tissue. The second patient started a course of tamoxifen followed by reduction surgery. While on tamoxifen, the second postoperative result remained stable, and the contralateral breast, which had exhibited some minor hypertrophy, regressed in size. The fourth patient was a gravid 24-year-old who had been treated for juvenile gigantomastia at age 14, and presented with gestationally induced recurrent hypertrophy. The authors' experience has been that juvenile gigantomastia in young patients is prone to recurrence, and is in agreement with previous studies that subcutaneous mastectomy provides definitive treatment. However, tamoxifen may be a useful adjunct and may allow stable results when combined with reduction mammaplasty. If successful, the use of tamoxifen would eliminate the potential complications of breast prostheses. Lastly, the 17-year-old patient did not require secondary surgery, suggesting that older patients may be treated definitively with reduction surgery alone.

This update focuses on current practices and controversies in surgical repair of the hard and soft palate posterior to the alveolus. Our current understanding of the advantages and disadvantages of presurgical active and passive manipulation of the hard palate shelves including the use of periosteoplasty is reviewed. The evolution of the multiple methods of repair of the hard and soft palate is given in a historical context along with a discussion of the concerns about timing of palate repair.

We report the speech outcome in 90 children with complete unilateral cleft lip and palate who underwent soft palate repair either between 3 and 7 months of age (n = 40) or later than 7 months of age (n = 50). In all patients, palatoplasty was performed by one of two experienced surgeons using a modification of the Furlow technique, and speech evaluations were conducted using the Pittsburgh Weighted Values for Speech Symptoms Associated with Velopharyngeal Incompetence by two speech pathologists with high inter-rater reliability. There were no differences between the groups with respect to resonance, nasal air emission, and articulation. Velopharyngeal function, as measured by the total speech score, was similar between the two groups of patients, as were the rates of secondary pharyngoplasty. These results suggest that very early closure of the soft palate may not offer significant benefit over repair later in infancy with respect to speech outcome.

The most common congenital deformity of the head and neck, cleft lip and palate, presents the surgeon with a unique esthetic and reconstructive challenge. The complexity of these deformities demands the skills of a multidisciplinary team of professionals to optimize surgical outcome. This article discusses the embryology, epidemiology, and genetics of cleft lip and palate and details the history and modern methods of their surgical correction, the proper goal of which is restoration of normal facial form and velopharyngeal function.

The 22q11.2 microdeletion syndrome is a genetic disorder that is being recognized with increasing frequency. Confirmation of the diagnosis can be made using fluorescence in situ hybridization. Many medical and developmental problems are present in children with this syndrome. Communication disorders are among the most common features of this syndrome and include articulation, language, resonance, and voice problems. The purpose of this paper is to provide a description of the communicative and developmental features in a sample of children with the 22q11.2 microdeletion syndrome seen for evaluation. Because communication and feeding disorders may be presenting features of this syndrome, speech and language pathologists must be familiar with this syndrome and its various characteristics. Awareness of these features and a multidisciplinary approach are necessary for the identification and treatment of the complex communicative and medical problems present in this population.

A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We describe our cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings.

Sarwer, David B. Ph.D.; Glatt, Brian S. M.D.; O'Hara, Daniel E. M.D.; Hamori, Christine M.D.; Bucky, Louis P. M.D.; LaRossa, Don M.D. Author Information

A microscopic deletion of chromosome 22q11.2 has been identified in most patients with the DiGeorge, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies. This study presents the neurodevelopmental outcome, including cognitive development, language development, speech, neuromuscular development, and behavioral characteristics of 40 preschool children (ages 13 to 63 months) who have been diagnosed with the 22q11.2 deletion. The impact of cardiac disease, cardiac surgery, and the palatal anomalies on this population was also studied. In the preschool years, children with a 22q11.2 deletion are most commonly found to be developmentally delayed, have mild hypotonia, and language and speech delays. The more significantly delayed children are at high risk to be subsequently diagnosed with mild or moderate mental retardation. The global delays and the variations in intelligence found are directly associated with the 22q11.2 deletion and are not explained by physical anomalies such as palatal defects or cardiac defects, or therapeutic interventions such as cardiac surgery. Our findings demonstrate that there is a pattern of significant speech disorders within this population. All of the children had late onset of verbal speech. Behavioral outcomes included both inhibition and attention disorders. Early intervention services are strongly recommended beginning in infancy to address the delays in gross motor skills, speech and language, and global developmental delays.

A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. We have evaluated 181 patients with this deletion. We describe our cohort of patients, how they presented, and what has been learned by having the same subspecialists evaluate all of the children. The results help define the extremely variable phenotype associated with this submicroscopic deletion and will assist clinicians in formulating a management plan based on these findings.

OBJECTIVEConotruncal cardiac anomalies frequently occur in patients with DiGeorge or velocardiofacial syndrome. Additionally, these patients may have overt or submucousal cleft palate, as well as velopharyngeal incompetence (VPI). Previous studies have demonstrated that the majority of these patients have a submicroscopic deletion of chromosome 22q11.2. We hypothesized that a subpopulation of newborns and children with congenital heart defects caused by a 22q11.2 deletion are at a high risk for having unrecognized palatal abnormalities. Therefore, we proposed to evaluate a cohort of patients with conotruncal cardiac malformations associated with a 22q11.2 deletion to determine the frequency of palatal abnormalities.METHODSWe identified 14 deletion-positive patients with congenital cardiac defects who had no overt cleft palate. Of the 14 patients evaluated for the 22q11.2 deletion, 8 patients were recruited from a previous study looking for deletions among patients with isolated conotruncal cardiac anomalies. Informed consent was obtained in these cases. The remaining patients had the deletion study on a clinical basis, ie, conotruncal cardiac defect and an absent thymus, immunodeficiency, or minor dysmorphia appreciated by the clinical geneticist. These patients were evaluated by a plastic surgeon and speech pathologist looking for more subtle palatal anomalies such as a submucousal cleft palate, absence of the musculous uvuli, and VPI. Some patients underwent videofluoroscopy or nasendoscopy depending on their degree of symptoms and age. VPI was not ruled out until objective evaluation by a speech pathologist and plastic surgeon was obtained. In addition, the child had to be old enough to provide an adequate speech sample.RESULTSOf the 14 patients evaluated, 6 patients older than 1 year were found to have VPI. It is noteworthy that 3 of these patients were older than 5 years and had remained unrecognized until this study. The remaining 6 patients had inconclusive studies based on their age (younger than 26 months) and their inability to participate in adequate speech evaluations. Two of these patients, however, had histories of nasal regurgitation suggesting VPI and, in addition, had incomplete closure of the velopharyngeal mechanism during crying and swallowing observed during nasendoscopic examination-consistent with the diagnosis of VPI. Thus, 8 of 14 patients evaluated had evidence of VPI by history and examination. The remaining 6 patients will require further study when they are older before a definitive palatal diagnosis can be made.CONCLUSIONSA significant number of patients with a 22q11.2 deletion in a cardiac clinic may have unrecognized palatal problems. Recognition of such abnormalities will afford patients the opportunity for intervention as needed, ie, speech therapy and/or surgical intervention. Notably, two of our patients with findings suggesting VPI were infants and will, therefore, be afforded the opportunity for close follow-up and early intervention. Furthermore, three school-aged children had palatal abnormalities that were unrecognized until this study. Thus, we recommend 22q11.2 deletion studies in patients with conotruncal cardiac malformations, followed by extensive palatal and speech evaluations when a deletion is present.

Periauricular cysts, sinuses, and fistulas occur commonly in the pediatric population. They arise from developmental defects of the first branchial cleft and first branchial arch. In most instances the diagnosis and management of these conditions are straightforward, but exceptional presentations sometimes occur. Failure to recognize these unusual cases may result in inadequate treatment and subsequent recurrence, and even if the correct diagnosis is made, surgical management of these lesions may be complicated. A series of 15 cases of periauricular congenital lesions is reviewed, of which three cases illustrating a diagnostic or surgical challenge are presented. The embryology, presentation, and management of these anomalies are discussed. This is one of the largest series of first branchial cleft anomalies reported in the literature, and our paper uniquely discusses first branchial cleft anomalies and preauricular sinuses together, with an emphasis on the surgical management of facial nerve, external ear, and middle ear involvement.

Reconstruction of full-thickness tissue loss of the nose, particularly in the nasal tip and supratip areas, remains a technical and aesthetic challenge. Exposure of the alar cartilage can complicate an already difficult reconstruction. Many methods of reconstruction have been described. We offer an alternative to previously described techniques, utilizing the nasalis aponeurosis to provide alar coverage and bulk, in conjunction with full-thickness skin grafting to minimize contour deformity. The authors describe the technique and anatomy based on cadaveric dissection and its use in 4 patients, We have performed the superficial nasalis aponeurotic system (SNAS) flap on 4 patients with satisfactory aesthetic results. Use of the SNAS for coverage obviates the need for resection of a dog-ear, as may be the case with cutaneous or musculocutaneous flaps. Alar contour deformity is minimal. The SNAS flap is a useful technique to provide soft-tissue coverage of full-thickness soft tissue loss of the nose.