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PubMed1979

Choanal atresia and associated multiple anomalies.

Seventeen unrelated patients with multiple anomalies of unknown etiology were identified by the presence of choanal atresia. A regularly recurring pattern of associated features involving mental retardation, postnatal growth deficiency, hypogenitalism (males), small ears, cardiac defects, micrognathia, postnatal microcephaly, and ocular coloboma was identified. Choanal atresia when accompanied by multiple anomalies of unknown etiology has a serious prognosis with a predictable pattern of associated defects.

Abnormalities, Multiple↗
PubMed1983

Hypoplastic right-sided heart complex: a cluster of cases with associated congenital birth defects. A new syndrome?

Fourteen infants, all born within the same geographic area in a two-year period, had hypoplastic right-sided heart complex associated with a high incidence of other congenital defects. No common teratogenic exposure or genetic relationships were discovered. Twelve of the 14 infants were conceived in the spring or summer. Significant elevations in serum antibody titers against coxsackie group B virus and echoviruses were noted in the general referral population during those spring and summer quarters. Cardiac defects included a hypoplastic right ventricle in every case; three types were noted. Varying degrees of right-sided valvular lesions and other intracardiac defects accompanied the hypoplastic ventricle. Eleven infants had extracardiac congenital anomalies: 10 had microcephaly, two had micrognathia with posterior cleft palate, four had low-set ears, and one had arrhinencephaly. The high incidence of extracardiac defects in the syndrome (79%) is in distinct contrast to the incidence reported in the New England Regional Infant Cardiac Program in infants who had pulmonic atresia with intact ventricular septum.

Abnormalities, Multiple↗
PubMed2003

Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia.

OBJECTIVE: To describe the clinical outcome of fetuses with the prenatal sonographic diagnosis of isolated micrognathia. METHODS: A retrospective review of fetuses and infants with the prenatal diagnosis of isolated micrognathia for April 1990 to August 2001 was undertaken. Isolated micrognathia was considered if no other anatomic, growth, or amniotic fluid abnormalities were detected by a detailed ultrasound examination. Sources of outcome data included maternal and neonatal medical records, prenatal genetics records, and karyotype results. RESULTS: Fifty-eight fetuses with the diagnosis of micrognathia were identified. Fifteen fetuses (26%) had isolated micrognathia by prenatal sonogram. After neonatal examination, 14 of 15 were found to have at least one additional abnormality. Eleven had a cleft of the soft and/or hard palate. Seven (54%) of 13 live-born neonates had mild to severe airway obstruction that required intervention. Four (31%) of 13 experienced feeding difficulties of varying duration. Follow-up data were available for 1 to 10 years. Eight (62%) of 13 children are reported to be doing well. Five (38%) of 13 children are reported to have mild to severe developmental delay. CONCLUSION: If micrognathia is the only sonographic finding identified, physicians and families should be prepared for possible respiratory difficulty at delivery, the presence of a cleft palate, and/or developmental delay.

Adult↗
PubMed1999

Objective diagnosis of micrognathia in the fetus: the jaw index.

OBJECTIVE: To provide an objective and accurate tool to diagnose micrognathia in the fetus. METHODS: The anteroposterior and laterolateral diameter of the mandible were measured in 262 normal fetuses between 12 and 37 weeks' gestation and plotted against gestational age and biparietal diameter (BPD). The jaw index (anteroposterior mandibular diameter/BPD x 100) was then tested against the usual subjective method for diagnosing micrognathia, consisting of the evaluation of the facial profile, in a population of 198 malformed fetuses, 11 of which had micrognathia at necropsy or birth. RESULTS: The mandibular growth was linearly correlated with gestational age and BPD. Using a cutoff level of less than 23, the jaw index had a 100% sensitivity and 98.1% specificity in diagnosing micrognathia, in comparison with 72.7% and 99.2% shown by the subjective evaluation of the fetal profile. With a cutoff of 21, it yielded a positive predictive value of 100%. CONCLUSION: We demonstrated the linear relationship between mandibular growth and gestational age or BPD. In addition, we validated the jaw index as an objective tool for diagnosis of micrognathia in the fetus.

Female↗
PubMed2004

[Predictability of maxillary distraction with the trans-sinusoidal distractor].

INTRODUCTION: This work was conducted to evaluate a new maxillary distractor with an activating system introduced into the maxilary sinus. PATIENTS AND METHOD: Fourteen patients age 8 to 55 Years with severe maxillary and midfacial hypoplasia were treated in our center. A trans-sinusoidal maxillary distractor (TS-MD, developed by Dr. N. Nadjmi in cooperation with Martin, Tuttlingen, Germany) was placed intra-orally at each side of the maxilla. The distraction vector was predicted with devoted software (Medicim N.V Belgium), and was transferred to the patients using stereolithographic models and individual templates. A high Lefort I type osteotomy was performed. RESULTS: Forward maxillary movement at distractor level varied from 7 to 22 mm. Soft and hard tIssue formation resulted in complete healing across the distraction gaps. The maxillary movements and new bone formation in the sagittal, horizontal, and vertical planes could be predicted and achieved. Distractors were designed to allow clockwise rotation of the maxilla during the distraction phase allowing the correction of the anterior open-bite in all patients with this skeletal deformity. The distractors were almost completely submerged, and could be left in place as long as necessary to avoid relapse. DISCUSSION: The TS-MD distractor has the advantage of good tolerance since the most voluminous part is placed within the maxilary sinus. Implantation via an exclusively oral approach is a further advantage. The devise does not interfere with the patient's social life and does not require alveolodental fixation. The TS-MD distractor can also aleviate the need for bone grafting in cases with major advancement. Correct position of the vector is crucial but one-sided catch-up distraction is possible.

Adolescent↗
PubMed2005

[Growth defects of fibular flaps in children].

BACKGROUND: Mandibular reconstruction with fibula free flap is a challenge in pediatric patients because of the size of the bone and absence of growth without epiphyseal transplantation. CASE REPORT: We report 2 cases of free fibula flap in children for mandibular reconstruction. The 2 patients presented with growth insufficiency of the bone graft after few years of evolution. DISCUSSION: Growth insufficiency was treated with different surgical procedures which were discussed We review the consequences on growth after fibula free flap and the specific indications to achieve epiphyseal fibular growth in children.

Bone Diseases, Developmental↗
PubMed2003

Extreme microglossia.

The congenital anomaly of extreme microglossia is uncommon and fewer than 50 cases have been described. The microglossia has often occurred in association with limb abnormalities and, therefore, these cases have been grouped together as the hypoglossia-hypodactylia syndrome within the oromandibular-limb hypogenesis syndromes. We present five cases seen at our referral centre. Surprisingly for this number none had limb anomalies but all had marked micrognathia-Gorlin-Hall classification type 5-two requiring tracheostomy for upper airway obstruction. All required tube feeding for between 4 and 17 months. Long term follow-up is not yet available.

Airway Obstruction↗
PubMed2002

Long-term results of distraction osteogenesis of the maxilla and midface.

Since the beginning of 1998, eight patients have been treated by osteodistraction to correct hypoplasia of the maxilla and midface of various origins. Among them were five patients who were treated by high LeFort I osteotomies and insertion of subcutaneous intraoral distraction devices in the malar region. In the remaining three patients, extraoral distraction devices were applied after LeFort II and III osteotomies. Distraction osteogenesis was successful in all cases, resulting in a mean sagittal bone gain measured parallel to the skull base of 9.0 mm (range 4.5-12.0) in the group treated with intraoral distractors and a mean of 20.3 mm in the extraoral distraction group (range 15.0-25.0). All patients were kept under orthodontic supervision before, during, and after osteodistraction. Long-term cephalometric and clinical evaluation after a mean follow-up period of 24 months in the intraoral distraction group (range 22-26) and 12 months in the extraoral distraction group (range 10-14) show stable results concerning the skeletal and dental relations. Long-term follow-up is necessary.

Adolescent↗
PubMed2003

Absence of reproductive and developmental toxicity in rats following oral dosing with nelfinavir.

The potential for nelfinavir mesylate (VIRACEPT) to produce reproductive toxicity was evaluated in rats administered oral doses of 200, 500, or 1000mg/kg/day. In the fertility and early embryonic development to implantation study, male rats were treated beginning 28 days prior to mating until necropsy and females for 2 weeks prior to mating and through gestation day (GD) 7. In the pre- and postnatal development study, pregnant rats were treated from GD 6 through lactation day (LD) 20. Selected F(1) pups from this study were evaluated in sensory and behavioral tests and were subsequently mated. Pregnant F(1) females were euthanized on GD 20 and their F(2) fetuses were examined. F(1) animals were not directly dosed with the drug. No treatment-related effects were observed on any male reproductive parameters. Administration of nelfinavir did not produce adverse effects on fertility, pregnancy, embryo-fetal development, parturition, or lactation in the F(0) generation. Similarly, no adverse effects of nelfinavir treatment were observed on pre- and postnatal growth, development, reproductive performance and embryo-fetal development in the F(1) offspring. Based on the results of this study, the no-observed-adverse-effect-level (NOAEL) for developmental and reproductive toxicity in rats was considered to be 1000mg/kg/day, the highest dose tested.

Administration, Oral↗