The acrofacial dysostoses (AFD) are a genetically heterogeneous group of inherited disorders with craniofacial and limb abnormalities. Rodriguez syndrome is a severe, usually perinatal lethal AFD, characterized by severe retrognathia, oligodactyly and lower limb abnormalities. Rodriguez syndrome has been proposed to be a severe form of Nager syndrome, a non-lethal AFD that results from mutation...

We have sometimes encountered difficulty in improving labially inclined teeth, particularly in patients with mandibular retrognathia, because the symphysis menti is often thin and insufficient space is available to permit sagittal rotation of the teeth without root exposure from the alveolar bone. We have previously described a three-stage method to overcome this problem, involving genioplasty ...

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, post-axial polydactyly, renal abnormalities, mental retardation, pigmentary retinopathy and hypogenitalism. Diagnosis is rare in early childhood, and only few of the features are present at that age. This is because the disease is slow evolving. However, it is possible to find majority of the componen...

Authors are with the Medical College of Wisconsin. Doctor Meyer is a resident in Otolaryngology and Communication Sciences; Dr. Woodson is Associate Professor Otolaryngology and Communication Sciences. INTRODUCTION Primary snoring and obstructive sleep apnea (OSA) lie at separate extremes of a continuum of sleep-related breathing disorders. In the 30-year-old population, 20% of men and 5% of wo...

AIM The aim of this report is to describe a significantly deficient case of alveolar bone that was managed by alveolar bone augmentation using a technique of distraction osteogensis and onlay bone grafting prior to dental implant placement. BACKGROUND Injury to the teeth and alveolar ridge of the maxillary anterior region can cause a severe alveolar ridge deficiency resulting in ridge atrophy...

OBJECTIVES To evaluate the need for a tracheotomy and its timing during the evolution of an association of malformations, including coloboma, heart defects, choanal atresia, developmental and growth retardation, genitourinary malformation, and ear anomalies (CHARGE association). DESIGN Retrospective study from January 1988 through December 1997. SETTING Four academic tertiary care centers. ...

In this study, we hypothesized that anatomic abnormalities of the oropharynx, particularly narrowing of the airway by the lateral pharyngeal walls, tonsils, and tongue, would be associated with an increased likelihood for obstructive apnea among patients presenting to a sleep disorders center. To test this hypothesis, we used data from a cohort of 420 patients presenting to the Penn Center for ...

BACKGROUND AND OBJECTIVES Moebius sequence (MS) is a rare paralysis of the VI and VII cranial nerves. Craniofacial changes, which can hinder tracheal intubation considerably, are seen in approximately 90% of the patients. CASE REPORT A male patient, 2 years and 5 months old, with MS, underwent flexible bronchoscopy for evaluation of laryngotracheomalacia. Comorbidities: bronchospasm and inter...

Interstitial deletions in the short arm of chromosome 1 are infrequent. We report a female with a 1p31.1p31.3 deletion and cloverleaf skull, who presented with renal and central nervous system malformations, cleft palate, severe ocular anomalies, and cutis laxa, in addition to the previously described clinical data present in other cases with deletions encompassing this region, such as developm...

The phenotype and severity of symptoms associated with deletions on chromosome 7 are directly proportional to the size of the deleted segment. Distal and interstitial deletions have been described in 40 cases. In this report the authors aim to report a child with a novel de novo interstitial deletion on chromosome 7, with the following karyotype: 46,XX,del(7)(p14.2 p15.1). We described a female...