1/4. An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy.Two sibs from an inbred Arab family are described with an autosomal syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping Bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. In one case the syndrome described was lethal. Cases with similar features are reviewed and genetic mutations discussed.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/4. Congenital salivary gland anlage tumor of the nasopharynx.OBJECTIVE: Nasal and upper respiratory tract obstruction in the neonatal period can result from a variety of conditions, and may present with variable symptoms. In the absence of dysmorphic features or other abnormalities, causes of nasal obstruction may be difficult to differentiate on initial examination. We report an unexpected and potentially life-threatening condition arising during the work-up of this common neonatal complaint. DESIGN: Case report with literature review. RESULTS: A male neonate presented with complaints of nasal obstruction and feeding difficulties. A common diagnostic approach to neonatal nasal obstruction was performed, resulting in an unexpected and potentially life-threatening, albeit curative, result. Cannulation of the nasal cavity to rule out choanal atresia resulted in a burst of bleeding from the nose and mouth. A finger sweep of the oropharynx produced a dislodged mass lesion. pathology revealed a salivary gland anlage tumor of the nasopharynx. CONCLUSIONS: The diagnosis of a nasopharyngeal mass lesion should be considered in neonates with nasal obstructive symptoms. It is wise to place an index finger in the oropharynx when passing catheters to rule out choanal atresia to feel a dislodged mass lesion before it can become an airway foreign body. Should passage of nasal catheters result in bleeding and/or respiratory distress, the possibility of a displaced mass lesion must be considered immediately to institute prompt intervention.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
3/4. Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.We describe a family with lacrimo-auriculo-dento-digital syndrome (LADD). A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, ptosis, nail dysplasia of the thumb, shortness of fifth toe, temporal bone abnormality and epilepsy. His younger sister had shortened middle phalanx of fifth digits. His middle sister had hypodontia, shortened distal phalanx of fifth digit, agenesis of salivary glands, mild hearing loss and exotropia. His older sister had left nasolacrimal duct obstruction and aplasia of both parotid glands. The oldest sister had hypodontia and divergent excess exotropia. His mother had hypodontia. These findings are consistent with LADD syndrome. An autosomal dominant pattern of inheritance with variable expressivity has been demonstrated. Renal and uro-genital anomalies have been noted variably.- - - - - - - - - - ranking = 0.8keywords = gland (Clic here for more details about this article) |
4/4. Nasal pyriform aperture stenosis and absence of the anterior pituitary gland: report of two cases.We describe two female infants with congenital nasal pyriform aperture stenosis and severe pituitary insufficiency. The anterior pituitary gland was undetectable with magnetic resonance imaging. consanguinity of parents in both cases suggests autosomal recessive inheritance of this disorder. An early fetal developmental defect may explain this syndrome, which affects midline craniofacial structures. In patients with congenital pyriform aperture stenosis, magnetic resonance imaging of the brain and endocrine investigations should be performed for rapid diagnosis and treatment of the latter to avoid major neurologic complications.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |