patient, who was kindly sent to me by Dr David Menzies, is suffering from sporadic cretinism?in other words, from the infantile form of myxcedema. She was admitted to the Edinburgh Eoyal Infirmary on March 30th, 1893. At that time, though she did not look more than 2 or 2| years of age, her actual age was 16 years and 4 months. She measured only 29? inches in length, and weighed only 2 st. 5| l...

A female infant who died at 2 years of age with growth and psychomotor retardation, wide anterior fontanelle, downward slanting palpebral fissures, large, simple ears, joint dislocation/contractures, recurrent infections, and severe pulmonary hypertension was found to have a de novo 7p+ chromosome. The G banding pattern was suggestive of a triplication of 7p21.3 and 7p22; results of fluorescenc...

Zellweger syndrome (cerebro-hepato-renal syndrome) is associated with generalized hypotonia, high forehead with flattened facies, hepatomegaly and talipes equinovarus. This pattern of malformations was first recognized in 1964 by Bowen and Smith. Zellweger syndrome is an autosomal recessive genetic disorder that is associated with multiple biochemical markers of peroxisomal dysfunction. A full ...

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder, features of which include a patient anterior fontanelle, a bulging calvarium, hypoplasia or aplasia of the clavicles, a wide public symphysis, dental anomalies, vertebral malformation, and short stature. The Cape Town kindred which is under our genetic management was originally described more than four decades ago and now consists...

The type specimen for Australopithecus africanus (Taung) includes a natural endocast that reproduces most of the external morphology of the right cerebral hemisphere and a fragment of fossilized face that articulates with the endocast. Despite the fact that Taung died between 3 and 4 y of age, the endocast reproduces a small triangular-shaped remnant of the anterior fontanelle, from which a cle...

BACKGROUND Transnasal cannulation of the natural ostium in patients with an intact uncinate process is complicated by the lack of direct visualization of the ostium. Accuracy of transnasal dilation of the maxillary ostium was evaluated for a malleable-tipped balloon device that was bent to specific angles for avoiding the fontanelle during cannulation. METHODS Transnasal cannulation and dila...

BACKGROUND We aimed to determine the knowledge and attitudes of Turkish pediatricians concerning vitamin D supplement. METHODS The study was planned cross-sectional to be carried out between April-May 2015 in Turkey. A questionnaire form that determined the participants' opinions and practices concerning vitamin D supplement was completed via face-to-face interview. RESULTS A total of 107 p...

Four sorghum hybrids (Fontanelle-625 [F-625]), Fontanelle-1000 [F-1,000], ATx631xRTx2907 [NE#20] and 5,040C) were characterized and evaluated for kernel characteristics, proximate analysis, flour characterization (particle size distributions, starch damage, amylose content and starch pasting properties) and end product in gluten-free tortilla. A commercial sorghum flour (TVM) was used as a cont...

A 3-month-old female infant who presented with patent sagittal suture and loss of weight is described. Physical examination revealed a large sagittal and metopic suture showing delayed closure, a high-arched palate, saddle nose, hypertelorism and nonpalpable edges of the bilateral clavicles. The clavicles also showed undue mobility. Radiological investigations of the cranial skeletal abnormalit...

purpose: to evaluate changes in anterior chamber (ac) parameters before and one month after nd:yag capsulotomy. methods: a total of 30 eyes from 27 patients with posterior capsule opacification graded 2-4 with surgical history of uneventful phacoemulsification and acrylic foldable iol implantation were included in this study. before capsulotomy and one month later, anterior chamber depth, volum...