11/42. Maxillofacial implications and surgical treatment of arthrogryposis multiplex congenita. A case of arthrogryposis multiplex congenita that affected a patient's temporomandibular joint is described. Preoperatively, the patient's interincisal opening was limited to 9 mm. Elective surgery was performed, which consisted of bilateral coronoidotomies, right and left meninscectomies, capsular release, and lateral pterygoid myotomies. Physical therapy was initiated postoperatively. Eighteen weeks after the surgery, the patient was able to open 18 mm and force open to 20 mm. The patient also noted significant improvement in speech and jaw function in the postoperative period. ( info) |
12/42. Klippel-Trenaunay syndrome (angio osteohypertrophy syndrome): a report of 3 cases. Klippel-Trenaunay syndrome was first reported in 1900 by Klippel and Trenaunay. The syndrome is characterized by the triad of vascular nevi, venous varicosity, and hyperplasia of soft tissue-and possibly bone-in the affected area. The original description was made with regard to the extremities. The syndrome is diagnosed on the basis of 2 or 3 symptoms. The 3 patients reported here presented with hemangioma and hypertrophy of the jawbone and concomitant malocclusion. There were clinically no obvious varicose veins. It appears that gravity plays an important role in the venous drainage from the head and neck region, and this could be the reason for the rarity of varicose veins in the head and neck region when compared with lower extremities. In addition, 2 of the 3 cases showed exophytic pedunculated growth arising from the gingiva, which has not been reported in any previous case reports. The following report presents the clinical features in the orofacial region and highlights the clinical significance of this syndrome. ( info) |
13/42. Nasomaxillary hypoplasia and severe orofacial clefting in a child of a mother with phenylketonuria. The offspring of mothers with untreated or poorly controlled phenylketonuria (PKU) (McKusick 261600) are at risk of having congenital anomalies including microcephaly, congenital heart defects and developmental delay (Rouse et al 1997). We report a child born to a mother with poorly controlled PKU and suggest that the facial abnormalities seen in this child could be part of the specturn of maternal PKU embryopathy. ( info) |
14/42. airway management in an infant with congenital centrofacial dysgenesia. The use of a laryngeal mask airway (LMA) on two occasions, in a 53-day-old and 270-day-old male infant with Tessier N.3 and N.4 facial defects, using sedation and topical anaesthesia is described. The LMA was used to manage the airway and facilitate inhalation induction of anaesthesia as the facial deformities were thought to be too extensive for the safe use of a facemask. The LMA is an alternative to a facemask and secures the airway and facilitates the inhalation induction of anaesthesia in paediatric patients with severe facial deformities. ( info) |
15/42. Probable case of Binder syndrome in a skeleton from Quarai, new mexico. Binder syndrome (maxillonasal dysplasia) is a not uncommon disorder reported in the clinical literature and is characterized by hypoplastic development of the midface. An extensive review of the paleopathology literature did not reveal any examples of Binder syndrome. In this paper, a probable case of Binder syndrome in a female skeleton, 16-17 years at age of death, from Quarai, new mexico (ca. AD 1375-1450) is presented. This case was identified during standard documentation prior to repatriation at the National Museum of natural history, Smithsonian Institution.The skull of this individual (381243) exhibits unusual facial features, including an underdeveloped midface, flattened glabella, absent nasal spine, and apparent alveolar prognathism, in addition to a vertebral anomaly. All of these characteristics are consistent with skeletal dysmorphologies associated with Binder syndrome. Measurements of the Quarai skull are compared with published data on Binder patients and normal control groups in order to quantify the nature of the observed morphology. Univariate analysis of craniometric/cephalometric data provides further support for a diagnosis of Binder syndrome, as critical measurements on the Quarai skull are consistent with those reported in Binder patients and significantly different from those reported for normal control groups. In addition to presenting a probable prehistoric case of Binder syndrome, this paper demonstrates the applicability of using direct comparisons of clinical data to help identify unusual conditions in skeletal remains. ( info) |
16/42. Abnormal anterior belly of the digastric muscle: a proposal for the classification of abnormalities. We recognized an abnormal anterior belly of the digastric muscle in an 83-year-old male cadaver. Three muscle bundles were observed on the left anterior belly: (i) attached to the left digastric fossa; (ii) attached to the right digastric fossa; and (ii) attached to the raphe of the mylohyoid muscle. Four muscle bundles were recognized on the right anterior belly: (i) attached to raphe of the mylohyoid muscle; (ii, iii) attached to the exterior surface on the base of the mandible from the raphe of the mylohyoid muscle; and (iv) attached to the interior surface on the base of the mandible from the raphe of the mylohyoid muscle. The raphe of the mylohyoid muscle was curved significantly to right and the four abnormal bundles found on the right anterior belly (see above) were attached to its curved point. ( info) |
17/42. Composite Z plasty for cicatricial ectropion of Tessier III cleft. Tessier III clefts represent one of the most difficult and challenging malformations of the face to repair. ectropion caused by a Tessier III cleft may be secondary to a vertical loss of both the anterior and posterior lamellae of the lower eyelids.A composite Z plasty to treat recurrence of cicatricial ectropion of the lower eyelids in Tessier III cleft is described. This is not only a technically easy and effective surgical method but also has a short operation time. To the best of the authors' knowledge, this is the first report of the application of a composite Z plasty in the successful treatment of ectropion. ( info) |
18/42. Occlusal guidance of two Kabuki make-up syndrome patients: case reports. Kabuki make-up syndrome (KMS) has been reported since 1981 by Niikawa et al. Complications of KMS were moderate mental retardation, skeletal and dermatoglyphic abnormalities. A 7 year-old boy, who had severe permanent tooth deficiency, anterior open bite, tongue thrust and mild mental retardation, was referred to our clinic. Oral characters of another patient were an anterior open bite, transposition of maxillary central and lateral incisor. Orthodontic treatment in two patients is reported and suggested future treatment plans in these patients is given. ( info) |
19/42. Thelarche variant in a girl with angelman syndrome. A case of angelman syndrome (AS) with thelarche variant in a 4.5-year-old girl is presented. Clinical suspicion of AS was raised at the age of 15 months when she presented with mental retardation and epilepsy, absence of speech, ataxic gait with jerky movements, hyperactivity and paroxysmal episodes of laughter. Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and prominent mandible. Dinucleotide repeat polymorphism (DNRP) analysis, identified absence of maternal alleles at D15S543, D15S113 and GABRB3 loci, findings consistent with AS. Studies on CYP19 locus (outside the 15q11-13 region) revealed the presence of two different alleles, thus excluding the possibility of paternal isodisomy of chromosome 15 in this patient. breast development at the age of 4.5 years, accompanied by accelerated growth velocity and bone age suggested the diagnosis of variant thelarche. This is the second case of AS with sexual precocity reported and whether this combination is a coincidence or not remains to be clarified. ( info) |
20/42. A syndrome of hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS). Hemimaxillofacial dysplasia and segmental odontomaxillary dysplasia appear to be the same syndrome, having the common features of unilateral abnormalities of bone, teeth, gums, and skin. oral manifestations are the hallmark of this condition. Those affected are generally recognized in childhood and may have partial anodontia, abnormal spacing of the teeth, delayed eruption, and gingival thickening of the affected segment. Reported cutaneous manifestations include facial asymmetry, Becker's nevus, "hairy nevus," lip hypopigmentation, discontinuity of the vermilion border, depression of the cheek, and erythema. The oral lesions do not appear to be progressive. We describe a child with features consistent with hemimaxillofacial dysplasia/segmental odontomaxillary dysplasia. Findings of a biopsy specimen from the cheek confirmed the presence of a Becker's nevus. Cutaneous findings reported in the previous 31 cases are reviewed and summarized. The acronym HATS (hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings) is introduced to reflect the spectrum of abnormalities in bone, teeth, and skin that may be seen in this developmental disorder. ( info) |