Report of ankylosis of the temporomandibular joint: treatment with a temporalis muscle flap and augmentation genioplasty.

J Contemp Dent Pract. 2006 Feb 15;7(1):125-33

Authors: Martins WD

A case of true bilateral ankylosis of the temporomandibular joint (TMJ) is presented. A 19-year-old male patient had a life-threatening ear infection at the age of ten resulting in a progressive restriction of his mouth opening. He presented with almost complete lack of mobility of the mandible. Surgical treatment was a resection of the ankylotic mass, interpositional temporalis composite muscle flaps, and early mobilization and aggressive physiotherapy. The functional results of the interpositional arthroplasty were excellent. After a two-year follow up, an augmentation genioplasty was performed in order to improve facial aesthetics.

PMID: 16491155 [PubMed - indexed for MEDLINE]

Long-term skeletal effects of mandibular symphyseal distraction osteogenesis. An implant study.

Eur J Orthod. 2005 Oct;27(5):512-7

Authors: Iseri H, Malkoç S

The purpose of this study was to investigate the long-term skeletal effects of mandibular symphyseal distraction osteogenesis (MSDO) with a tooth- and bone-borne distraction device, analysed using the metallic implant method. The study sample comprised 20 patients between 15.8 and 25 years of age, with a mean age of 20.01 +/- 2.25 years at the start of treatment. In 12 subjects, titanium implants were inserted in the mandible to analyse mandibular skeletal changes in the short and long term. A custom-made intraoral, tooth- and bone-borne distractor was designed and used. After a latency period of 7 days, the distractor was activated twice daily, by a total amount of 1 mm. Postero-anterior (PA) cephalograms were obtained at the start of distraction and at the end of consolidation (94.95 +/- 5.79 days after surgery) and follow-up periods (21.5 +/- 4.6 months after consolidation). The data were analysed statistically using paired t-tests. The mean amount of screw activation was 8.10 +/- 1.68 mm. The inter-symphyseal and inter-molar implant distances and the bimolar width significantly increased during the consolidation period (P < 0.001) and were maintained at the end of the follow-up. On the other hand, the bicondylar width was markedly decreased (P < 0.05), while no significant skeletal changes were observed in bigonion and biantigonion widths, inter-ramal implant distance, or inter-ramal and implant angles at the end of the consolidation period. The long-term findings of this study indicate that MSDO provides an efficient and stable non-extraction treatment alternative, mainly by increasing the anterior mandibular skeletal and dental arches.

PMID: 16043467 [PubMed - indexed for MEDLINE]

Seckel syndrome with polyarteritis nodosa.

Indian Pediatr. 2004 Nov;41(11):1158-61

Authors: Kutlu R, Alkan A, Kutlu O, Yakinci C

Seckel syndrome is a rare genetic disorder with a typical "bird-headed" appearance. It could affect many organ systems but renal involvement is uncommon. Polyarteritis nodosa is systemic vasculitic disorder which also involves kidneys. We report a case of Seckel syndrome in a 9 year-old boy with renal involvement due to polyarteritis nodosa. According to the literature, this is the first report of polyarteritis nodosa in Seckel syndrome.

PMID: 15591669 [PubMed - indexed for MEDLINE]

Mandibular distraction for micrognathia and severe upper airway obstruction.

Arch Otolaryngol Head Neck Surg. 2004 Mar;130(3):344-8

Authors: Mandell DL, Yellon RF, Bradley JP, Izadi K, Gordon CB

OBJECTIVE: To determine whether the use of mandibular distraction osteogenesis (DOG) can help to avoid tracheotomy or achieve decannulation in patients with mandibular hypoplasia and severe upper airway obstruction. DESIGN: Retrospective medical record review (spanning a 27-month period). SETTING: Tertiary care children's hospital. SUBJECTS: Group A (n=8) was composed of infants with Pierre Robin sequence and no tracheotomy (mean age, 2.5 months); group B (n=6), older nontracheotomized micrognathic children with obstructive sleep apnea (OSA) (mean age, 69 months); and group C (n=12), tracheotomized children with complex congenital syndromes (mean age, 33 months). INTERVENTION: Bilateral mandibular DOG with endoscopic (n=24) and/or radiographic (n=17) airway evaluation (mean follow-up, 16 months [range, 2-42 months]). OUTCOME MEASURES: Group A, tracheotomy avoidance; group B, resolution of OSA (clinically or on polysomnography); and group C, decannulation. RESULTS: Group A, 7 patients (88%) successfully avoided tracheotomy; group B, 5 patients (83%) had resolution of OSA; and group C, 2 patients (17%) underwent decannulation. CONCLUSIONS: Mandibular DOG (1) allows tracheotomy avoidance in infants with isolated Pierre Robin sequence and (2) relieves OSA in older micrognathic children without tracheotomy. However, mandibular DOG does not frequently lead to decannulation in tracheotomized patients with complex congenital syndromes.

PMID: 15023845 [PubMed - indexed for MEDLINE]

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.

Eur J Hum Genet. 2003 Mar;11(3):265-70

Authors: Melkoniemi M, Koillinen H, M&#xE4;nnikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L

Cleft palate is a common birth defect, but its etiopathogenesis is mostly unknown. Several studies have shown that cleft palate has a strong genetic component. Robin sequence consists of three of the following four findings: micrognathia, glossoptosis, obstructive apnea, and cleft palate. While cleft palate is mainly nonsyndromic, about 80 percent of Robin sequence cases are associated with syndromes. Mutations in genes coding for cartilage collagens II and XI, COL2A1, COL11A1 and COL11A2, have been shown to cause chondrodysplasias that are commonly associated with Robin sequence, micrognathia or cleft palate. We therefore analyzed a cohort of 24 patients with nonsyndromic Robin sequence, 17 with nonsyndromic cleft palate and 21 with nonsyndromic micrognathia for mutations in COL11A2. A total of 23 Robin sequence patients were also analyzed for mutations in COL2A1 and COL11A1. We detected two disease-associated mutations in patients with Robin sequence, an Arg to stop codon mutation in COL11A2 and a splicing mutation in COL11A1. Two putatively disease-associated sequence variations were found in COL11A1 in Robin sequence patients, one in COL11A2 in a patient with micrognathia and one in COL2A1 in two patients with Robin sequence. The results showed that sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes.

PMID: 12673280 [PubMed - indexed for MEDLINE]

Moulding of the generate to control open bite during mandibular distraction osteogenesis.

Eur J Orthod. 2002 Dec;24(6):639-45

Authors: Peltomäki T, Grayson BH, Vendittelli BL, Katzen T, McCarthy JG

Distraction osteogenesis of the craniofacial skeleton has become a widely accepted, safe, and effective means of craniofacial reconstructive surgery. Despite excellent results in general, there are still some uncertainties related to the procedure, such as development of an anterior open bite (AOB) during mandibular distraction. The aim of this study was to examine whether 'moulding of the generate', i.e. use of intermaxillary elastics during the active distraction phase is possible to close the mandibular plane angle and open bite. Three subjects, 13- and 15-year-old males and a 7-year-old female, underwent mandibular linear and angular bilateral distraction osteogenesis with moulding of the generate. Lateral cephalograms were obtained before the introduction of elastics and following distraction, once the activation was stopped and the patients were ready for the consolidation phase. Conventional cephalometric measurements were used to assess possible changes in the mandibular plane angle and incisor position. Three different anchorage systems (dental, orthopaedic, and skeletal) were used for placement of the intermaxillary elastics. Cephalometric examination showed that the mandibular plane angle was decreased during active distraction osteogenesis with the introduction of elastics and angulation of the distraction device. Depending on the type of elastic anchorage system, smaller or greater amounts of extrusion of the incisors were noted. Moulding of the generate during active distraction can be performed to reduce the mandibular plane angle and open bite. To prevent unwanted dentoalveolar changes from occurring during elastic traction, skeletal rather than dental fixation of the elastics is recommended. Intrusive mechanics may be incorporated into the orthodontic appliances to balance extrusive force by the moulding elastics.

PMID: 12512781 [PubMed - indexed for MEDLINE]

Maxillo-nasal dysplasia, Binder's syndrome: review of the literature and case report.

J Orthod. 2002 Mar;29(1):15-21

Authors: Dyer FM, Willmot DR

A 12-year-old girl with maxillo-nasal dysplasia (Binder's syndrome), featuring maxillary hypoplasia and relative mandibular prognathism, presented with a Class III incisal relationship. Her treatment was managed orthodontically. The principal features of the syndrome and management of these cases is discussed.

PMID: 11907305 [PubMed - indexed for MEDLINE]

The cerebro-costo-mandibular syndrome: 9-year follow-up of a case.

J Postgrad Med. 2000 Oct-Dec;46(4):268-71

Authors: Hosalkar HS, Shaw BA, Ceppi CL, Ng BC

Cerebro-costo-mandibular syndrome (CCMS) is a rare multiple congenital anomaly with a low survival rate. There are few reports of long-term survival in this condition. We describe the findings and management of a 9-year-old survivor of CCMS, outline the importance of early intervention and multidisciplinary team approach. The child presented in the neonatal period in respiratory distress with classical features of the syndrome. Aggressive initial respiratory management was later followed up with an integrated multidisciplinary team approach. He has been carefully followed up for nine years now, illustrating well, the course of the syndrome.

PMID: 11435654 [PubMed - indexed for MEDLINE]

Prenatal detection of trisomy for the entire long arm of chromosome 7.

J Med Genet. 2000 Jul;37(7):551-3

Authors: Ndah BV, Stead JA, Brancazio LR, Hummel M, Wenger SL

PMID: 10970193 [PubMed - indexed for MEDLINE]

Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?

Eur J Hum Genet. 1998 Jan;6(1):71-4

Authors: Hennekam RC, Goldschmeding R

We describe a newborn with complete absence of ossification of the ribs, extreme micrognathia, absence of external ear canals and the inner ears, and diminished mobility in the upper extremities. It is suggested that this represents an unusually severe expression of the cerebro-costo-mandibular syndrome. Some developmental genes that may have played a role in the pathogenesis are briefly reviewed.

PMID: 9781016 [PubMed - indexed for MEDLINE]

Magnetic resonance imaging of the airway in an infant with micrognathia.

Anesth Analg. 1998 May;86(5):964-6

Authors: Abouleish AE, Mayhew JF

PMID: 9585277 [PubMed - indexed for MEDLINE]

The anesthetic management of patients with multiple pterygium syndrome.

Anesth Analg. 1996 Aug;83(2):430-2

Authors: Kuzma PJ, Calkins MD, Kline MD, Karan SM, Matson MD

PMID: 8694333 [PubMed - indexed for MEDLINE]

Teratogenic effects of biotin deficiency in mice.

J Nutr. 1983 Mar;113(3):574-81

Authors: Watanabe T

Teratogenic effects of maternal biotin deficiency produced by a diet containing egg white were studied in mice. More than 90% of the fetuses from biotin-deficient females showed external or skeletal congenital abnormalities. The predominant malformations were micrognathia (91%), cleft palate (82%) and micromelia (41%). Simultaneous supplementation of biotin at the level of 10 mg/kg in the diet thoroughly prevented these malformations. Thus congenital malformations observed in this study were apparently due to the maternal dietary deficiency of biotin during pregnancy. Even though so many fetuses were malformed and many were also stunted, their dams did not exhibit any overt signs of biotin deficiency such as alopecia, dermatitis or nervous irritability.

PMID: 6827377 [PubMed - indexed for MEDLINE]

Craniofacial morphology of the underbite trait in Presbytis.

J Dent Res. 1979 Jun;58(6):1655

Authors: Sirianni JE

PMID: 109480 [PubMed - indexed for MEDLINE]

Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.

AJR Am J Roentgenol. 1976 Dec;127(6):927-33

Authors: Kassner EG, Haller JO, Reddy VH, Mitarotundo A, Katz I

Frontometaphyseal dysplasia is a syndrome that encompasses cranial hyperostosis, abnormal tubulation of cylindrical bones, and other skeletal and extraskeletal abnormalities. The most striking features are overgrowth of the supraorbital ridges which results in a Mephistophelian facial appearance and a radiographic configuration of the skull that has been likened to a soldier's helmet. Most patients have severe hearing loss, defective dentition, poorly developed musculature, and joint contractures. Dominant inheritance has been suggested in previous reports, but an appropriate pedigree has been documented in only one family. This paper describes three additional patients in two unrelated families: (1) an 8-year-old boy whose mother has mild metaphyseal dysplasia and several minor skeletal abnormalities that have occurred in patients with the syndrome; and (2) two maternal half-brothers. These cases provide additional evidence that frontometaphyseal dysplasia is an autosomal dominant trait with variable penetrance.

PMID: 998829 [PubMed - indexed for MEDLINE]

Cerebro-costo-mandibular syndrome: long term follow-up of a patient and review of the literature.

AJR Am J Roentgenol. 1976 Jun;126(6):1223-8

Authors: Williams HJ, Sane SM

The cerebro-costo-mandibular syndrome is a rare disorder, and most afflicted infants die during the first few months of life. The pertinent features of the syndrome are reviewed, and a hitherto undescribed finding in the pelvis is described. A case is reported in which vigorous treatment permitted survival. Serial roentgenograms subsequently demonstrated a progressive diminution of the characteristic posterior rib-gap defects.

PMID: 179385 [PubMed - indexed for MEDLINE]

Splenogonadal fusion-a rare congenital anomaly demonstrated by 99Tc-sulfur colloid imaging: case report.

J Nucl Med. 1975 Oct;16(10):922-4

Authors: Guarin U, Dimitrieva Z, Ashley SJ

A case report illustrating the value of spleen scanning in the diagnosis of a rare anomaly characterized by fusion of the spleen and left testis is described. This malformation results from faulty organogenesis during the fifth to the eighth week of fetal development. Only 65 cases have been reported in the world literature. In most instances, the anomaly is recognized as an incidental finding at autopsy or at surgical exploration of the abdomen. In 20% of cases the anomaly is associated with osseous malformations such as peromelia, ectromelia, micrognathia, and talipes.

PMID: 240914 [PubMed - indexed for MEDLINE]

Stickler's syndrome (hereditary progressive arthro-ophthalmopathy).

Can Med Assoc J. 1974 Nov 16;111(10):1071-6

Authors: Popkin JS, Polomeno RC

PMID: 4429933 [PubMed - indexed for MEDLINE]

Systemic associations of uveal coloboma.

Br J Ophthalmol. 1974 Nov;58(11):917-21

Authors: James PM, Karseras AG, Wybar KC

PMID: 4457104 [PubMed - indexed for MEDLINE]

Orofacial malformations.

Proc R Soc Med. 1974 May;67(5):343-9

Authors: Poswillo DE

PMID: 4835278 [PubMed - indexed for MEDLINE]

Gross congenital malformations. Animal model: treatment of various species with a large dose of vitamin A at known stages in pregnancy.

Am J Pathol. 1972 Mar;66(3):589-92

Authors: Shenefelt RE

PMID: 4551297 [PubMed - indexed for MEDLINE]

Some congenital malformations necessitating emergency operations in the newborn period.

Br Med J. 1971 Oct 30;4(5782):286-90

Authors: Rickham PP

PMID: 4256503 [PubMed - indexed for MEDLINE]

The 13q-deletion syndrome.

Am J Hum Genet. 1969 Sep;21(5):499-512

Authors: Allderdice PW, Davis JG, Miller OJ, Klinger HP, Warburton D, Miller DA, Allen FH, Abrams CA, McGilvray E

PMID: 5347076 [PubMed - indexed for MEDLINE]

The teratogenic effects of 5-fluorocytosine in the rat.

Cancer Res. 1969 Mar;29(3):554-7

Authors: Chaube S, Murphy ML

PMID: 5813093 [PubMed - indexed for MEDLINE]

Planimetric studies of mandibles in A-Jax mice born with cortisone-induced cleft palates.

J Dent Res. 1968 Sep-Oct;47(5):725-32

Authors: Schwartz DM, Chaudhry AP

PMID: 5248912 [PubMed - indexed for MEDLINE]

Oral disorders associated with ocular disease. II. Disorders affecting dentition.

Br J Ophthalmol. 1967 Apr;51(4):284-5

Authors: Harcourt B

PMID: 4960351 [PubMed - indexed for MEDLINE]

Acquired corneal dystrophy; dysgenesis of the anterior segment of the eye, blue scleral band, oligodontia, and metacarpal dysplasia (dysplasia oculo-dento-digitalis?).

Br J Ophthalmol. 1965 Oct;49(10):521-9

Authors: Henkes HE

PMID: 4953921 [PubMed - indexed for MEDLINE]