1/3. Asymmetric crying facies and congenital hypothyroidism: report of two patients.A congenital asymmetric crying facies (ACT) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. It is also well known that congenital hypothyroidism may be associated with other congenital malformations, especially with cardiac defects. Two newborn infants who had ACF associated with congenital heart defect and congenital hypothyroidism are described. To the best of our knowledge the association of ACF and congenital hypothyroidism has not previously been published.- - - - - - - - - - ranking = 1keywords = facies (Clic here for more details about this article) |
2/3. Dyshormonogenic hypothyroidism with normal neurological development, unexplained short stature and facial anomalies in three siblings.We report three members of a family with clinical and laboratory features, consistent with dyshormonogenic hypothyroidism, with an autosomal recessive pattern of inheritance. Two had primary hypothyroidism with normal Tc(99m) thyroid scans, presenting with growth delay at ages of 7.5 and 2, and one had hypoplasia of the right lobe of the thyroid with left lobe hemiagenesis and low thyroid uptake in iodide thyroid scan, diagnosed at 14 months. They had slender facies with nasal retrognathic mandible and a prominent bridge. They had reasonably normal intellectual development despite delayed onset of treatment. Despite advancement of bone age with treatment the patients remained significantly short. Possible differential diagnoses are dyshormonogenic hypothyroidism, especially hyporesponsiveness to thyrotropin and short stature that may be due to an abnormal gene in this family.- - - - - - - - - - ranking = 0.2keywords = facies (Clic here for more details about this article) |
3/3. congenital hypothyroidism associated with rubinstein-taybi syndrome.rubinstein-taybi syndrome is a genetic syndrome characterized by broad thumbs and big toes, growth retardation, mental deficiency and dysmorphic facies. We report the association of Rubinstien-Taybi syndrome with congenital hypothyroidism.- - - - - - - - - - ranking = 0.2keywords = facies (Clic here for more details about this article) |