ABSTRACT
Cleft palate lateral synechia (CPLS) syndrome is an extremely rare congenital malformation syndrome of unknown origin, characterized by the association of cleft palate and one or more intraoral lateral synechiae (OMIM # 119550). Fewer than 20 cases have been described to date. The clinical and histological findings and results of genetic investigations for two additional cases of CPLS are presented herein, in order to better delineate this syndrome, within the context of the relevant literature. The first case presented with a U-shaped cleft palate, bilateral synechiae, and Pierre Robin sequence, requiring early sectioning of the synechiae because of severe feeding problems. The second case presented with a V-shaped cleft palate and a single synechia, running from the left border of the cleft to the floor of the mouth, and was without feeding difficulties. In both cases, histopathological examination of the synechiae revealed an aspect of mucous membranes macroscopically, while staining of sections indicated lymphocyte infiltrates and parakeratosis with stratified squamous epithelium, associated with vessel and connective tissue abnormalities. Sequencing of candidate genes did not identify a genetic cause. Accurate clinical descriptions, histopathological diagnosis, and genetic investigations of patients with synechiae are lacking in the literature. Better characterization of future cases of CPLS will give new insights into its developmental causes.
Subject(s)
Abnormalities, Multiple , Cleft Palate , Jaw Abnormalities , Mouth Abnormalities , Pierre Robin Syndrome , Cleft Palate/complications , Cleft Palate/genetics , Cleft Palate/surgery , Humans , Mouth Abnormalities/diagnosis , Pierre Robin Syndrome/complications , Tissue Adhesions/congenitalABSTRACT
PURPOSE: We evaluated bone mineral density and phosphorus calcium status in patients with chronic lung diseases. PATIENTS AND METHODS: A prospective study was conducted in 58 patients (43 men and 15 women, mean age 44 years, age range 16-68 years) who were classed in three groups: chronic obstructive diseases (25 patients), cystic fibrosis (19 patients), and other lung diseases (14 patients). Fifteen percent of the patients were receiving corticosteroid therapy. Bone mineral density of the lumbar spin and the femoral neck was measured. RESULTS: Serum calcium, phosphate, creatinine, osteocalcin and parathyroid hormone were normal. The 25-hydroxyvitamin D (normal=9-40 ng/ml) level was in the lower limits of normal (12 ng/ml) and was severely decreased in 12 patients (<7 ng/ml). CONCLUSION: Chronic lung disease can lead to osteoporosis. Corticosteroids, low vitamin D level, sedentary lifestyle, smoking, and in cystic fibrosis nutritional deficiencies, delayed puberty and hypogonadism are risk factors. Bone density must be measured in order to prevent and treat osteoporosis.
