S OF ILLUSTRATIVE HISTORIES Patients with Marked Symptoms of Cretinism From Birth and No Uptake of V31 Case 1. It was noted at birth that the infant had a peculiar bloated appearance with puffy features. short fat neck and depressed nasal bridge. The tongue was thick and protruded so that he had difficulty breathing and feeding. His hands and feet were always cold and the skin was dry. dusky an...

S OF ILLUSTRATIVE HISTORIES Patients with Marked Symptoms of Cretinism From Birth and No Uptake of V31 Case 1. It was noted at birth that the infant had a peculiar bloated appearance with puffy features. short fat neck and depressed nasal bridge. The tongue was thick and protruded so that he had difficulty breathing and feeding. His hands and feet were always cold and the skin was dry. dusky an...

Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although coexistence gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it still quite infrequent. To extent that authors searched, just one study reported association between Rokitansky sequence Dandy-Walker malformation. Clinical Prese...

We examined the patterns of TSH, T(4), and treatment schedules from diagnosis to 4 yr of age in 125 children (50 males anf 75 females) with congenital hypothyroidism (CH). Subjects were divided into 3 groups based on their thyroid scans: 1) athyreosis (n = 31), 2) dysgenesis (n = 54; 49 lingual and 5 hypoplastic), and 3) dyshormonogenesis (n = 40). Follow-up evaluation was carried out at 2-4 wk...

Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and...

objective: to report a case of long-term disease free and successful pregnancy after fertility sparing staging surgery with adjuvant chemotherapy in a 46,xy gonadal dysgenetic with malignant germ cell tumor. materials and methods: a case report from a university hospital about a 19-year-old female with 46,xy karyotype ( swyer syndrome). the patient underwent bilateral gonadectomy and staging wi...

purpose: to report a case of partial agenesis of the inferior rectus muscle in a child who was presented because of ocular misalignment and a deficient depression of the right eye. patient and findings: the patient was a 4-year-old girl. preoperative ct scans confirmed the clinical diagnosis of inferior rectus agenesis. the patient underwent augmented transposition of horizontal recti muscles w...

abstract how to cite this article: akhondian j, ashrafzadeh f, beiraghi toosi m, moazen n, mohammadpoor t, karimi r. joubert syndrome in three children in a family: a case series. iran j child neurol. 2013 winter: 7(1); 39-42.   joubert  syndrome  (js)  is  a  rare  autosomal  recessive  central  nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abn...

The pathogenesis of congenital hypothyroidism due to thyroid dysgenesis is still unknown. A point mutation in the TSH receptor (TSHR) of the hypothyroid hyt/hyt mouse invoked the TSHR as a candidate gene for congenital hypothyroidism. Therefore, we screened for mutations in the TSHR gene in patients with congenital hypothyroidism and hypoplasia of the gland. In one girl detected in neonatal scr...

An 11-week human fetus with megacystis, prostatic dysgenesis, and lateral displacement of the abdominal muscles is described. We suggest that a subtle outflow obstruction of the very early bladder may give rise to both bladder dilation and bladder wall dysgenesis. The bladder dilation may produce abdominal muscle dysplasia or atrophy and almost certainly produces dilation of the prostatic ureth...