ABSTRACT
BACKGROUND: Hypophosphatasia is an osseous dysplasia with highly variable clinical expression, ranging from a recessive lethal prenatal type to late onset dominant short stature with premature shedding of teeth. Lethal forms of hypophosphatasia include short limb dwarfism with lack of ossification, especially on the vertebral bodies, very slender ribs and clavicles, and bowed, short lower extremities, with a bifid aspect of the diaphyses. Alkaline phosphatase is abnormally low in liver, bone, kidney and plasma. METHODS: We present here the prenatal images of a lethal form of hypophosphatasia, diagnosed precociously because of specific osseous spurs in a context of recurrent short limb dwarfism. RESULTS: Prenatal 3D ultrasonography has shown these spurs as early as 18 weeks. Molecular biology found compound heterozygous mutations in the gene TNSALP. CONCLUSION: In a context of short limb dwarfism, the search for these specific osseous spurs orient strongly toward the diagnosis of lethal hypophosphatasia.
Subject(s)
Bone and Bones/abnormalities , Hypophosphatasia/diagnostic imaging , Ultrasonography, Prenatal , Alkaline Phosphatase/blood , Female , Fetal Diseases/diagnostic imaging , Humans , Hypophosphatasia/embryology , Imaging, Three-Dimensional , PregnancyABSTRACT
OBJECTIVES: Deletion of short arm of chromosome 4 is difficult to ascertain prenatally, and can be missed. METHODS: A prenatal suspicion of 4p- syndrome was thoroughly investigated by using two-dimensional and three-dimensional sonography, with a description of the fetal face dysmorphological pattern. The cytogenetic confirmation, obtained by karyotype and FISH technique, allowed a precise description of the prenatal abnormalities. Post-termination tridimensional helicoidal scanner of the fetal face was performed. RESULTS: The main anomaly discovered using two-dimensional sonography was the presence of a strikingly thick prefrontal edema (8 mm, twice the normal values, at 22 weeks: 3.81 +/- 0.62 mm). Three-dimensional sonography showed the classical postnatal profile, with the phenotypic aspect of a 'Greek warrior helmet'. Nasal bones were normal in size and placement, confirmed by helicoidal scanner. CONCLUSION: Prenatal diagnosis of 4p deletion syndrome can be difficult, and it is the presence of prefrontal edema, associated with more subtle facial anomalies (short philtrum, microretrognathia) which should trigger cytogenetic investigation for 4p- deletion, even with only borderline growth retardation.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 4 , Craniofacial Abnormalities/diagnosis , Edema/etiology , Forehead , Adult , Female , Fetal Growth Retardation/diagnostic imaging , Humans , In Situ Hybridization, Fluorescence , Pregnancy , Prenatal Diagnosis , Syndrome , Ultrasonography, PrenatalSubject(s)
Colonic Neoplasms/diagnostic imaging , Lipomatosis/diagnostic imaging , Tomography, X-Ray Computed , Abdominal Pain/etiology , Adult , Barium Sulfate , Colonic Neoplasms/complications , Contrast Media , Diagnosis, Differential , Enema , Fever/etiology , Humans , Lipomatosis/complications , Male , Tomography, X-Ray Computed/methodsABSTRACT
Antro-choanal polyp (ACP) is traditionally removed by performing Caldwell-Luc operation. The aim of this study was to evaluate the interest of removing ACP via enlarged middle meatotomy performed under endoscopic control (EMM). The cases of 19 patients who underwent EMM for ACP removal between 1991 and 1993 were retrospectively analyzed. The main symptom was nasal obstruction and ACP was diagnosed according to endoscopy, CT-scan and pathological examination. The usual technique for EMM included coagulation of the mucosal area of implantation of the ACP pedicle. The pedicle was localized on the external maxillary wall in 68.5% of cases. No complications was reported while ACP recurred in only one case. Using EMM to remove ACP appears therefore to be a safe and non-invasive method. The localization and removal of the ACP pedicle with coagulation of its mucosal area of implantation is recommended.
