Sanjad-sakati syndrome: a rare autosomal recessive disorder of congenital hypoparathyroidism-microcephaly-mental retardation-seizures-growth retardation and dysmorphism

Three families with seven patients [three males and four females] represented by repeated attacks of seizures and hospitalized in Taef Children Hospital. These patients were en over a period of 9 months. All patients shared most of the typical dysmorphic features of Sanjad-Sakati syndrome as microcephaly, deep set eyes, beaked nose, micrognathia, abnormal ear malformations, short stature and small hands d feet. In addition to the previous features, hypoparathyroidism was diagnosed by laboratory investigations and showed low calcium concentration, high phosphorus level and low immuno-reactive parathyroid hormone level. All the patients bad normal karyotype. Accurate and proper clinical examination was of great importance to differentiate this syndrome from another similar syndrome known as Kenny-Caffey syndrome which has the same homozygous deletion in TBCE gene. We recommended molecular study for all the patients and their parents which confirms the diagnosis and gives great help in genetic counseling

Bone mineralization and body composition in turner syndrome

Females with Turner syndrome are at risk for decreased bone density from ovarian failure and possibly from haploin-sufficiency for bone-related X-chromosome genes. We studied the relation between bone density, anthropometry, body composition and chromosomal abnormalities in Turner syndrome. The study included 18 females with Turner syndrome. They were divided in two groups. Group A consisted of 12 cases with 45, X karyotype [classic Turner syndrome] and their mean age of 13.5 +/- 5.5 years. Group B included 6 cases with mosaic karyotype and their mean age of 16.3 +/- 4.2 years. Bone mineral density [BMD] was determined using dual energy X-ray absorptiometry scans [DEXA]. BMD was measured in the femoral neck [FN], lumber spine [LS], and forearm [FA]. Body composition was assessed using RJL body fat analyzer. Anthropometry was carried out for each case. Seventy-two percent of females investigated had osteope-nia. When BMD was expressed as z-scores [individual values compared to normal reference data matched for age and weight] for all cases at it was 0.587 +/- 0.10 at FN and was 0.630 +/- 0.17 at LS. In group A bone mineral density was decreased [osteope-nia] by 66.7% in FN, and 25% in LS. In group B bone mineral density was decreased by 66.7% in FN, and 50% in LS. When comparing females in group A with those of group B, there was no statistical difference in BMD at femur and spine. The ostopenia found in patients of group A and B was not related to type of X-chromosomal aberrations. Group A showed significant increase in TBW and Corinic index SDS as compared to group B. Body fat and lean percentages are similar in the two studied groups. Also, no correlation was found between BMD and body weight, body height, body fat or percentage body fat. Body composition changes seem to be more impressive in classic Turner patients, while BMD changes are similar in the two groups. Achieving optimal bone density is of critical importance for fracture prevention in TS

Hepatomegaly: a major clinical sign in some metabolic disorders

This study included 18 cases with hepatomegaly referred to the Human Genetics Department, National Research Centre with a suspicion of a metabolic disorder from 2006 to 2008. The aim of our study was to find out the importance of hepatomegaly as sign for many metabolic disorders and their frequency among other disorders with hepatomegaly. All cases were subjected to clinical and biochemical studies. 12 cases, 66%, [10 males 83.4% and 2 females 16.6%] were diagnosed with a metabolic disease. 8 cases with mucopolysaccharidosis [MPS] [3 cases MPS I, 3 cases MPS II, one case MPS III and one case MPS VI]; one case with glycogen storage disease [GSD]; one case with galactosemia and 2 cases with Niemann-Pick disease type C. 75% of the diagnosed cases showed positive consanguinity and the remaining 25% were three patients with MPS II with an X linked mode of inheritance

use of three dimension ultrasound and colour doppler in assessment of fetal lung and detection of other congenital anomalies in familial diabetic pregnant women

Diabetics Mellitus complications approximalety 3-4 per 1000 pregnancies. It is a syndrome in which hereditasry and environmental factors intersect leading to inadequate insulin action. In this stud we assess fetal lung in family diabetic pregnant women through studding fetal lung circulation by means of pulmonary Doppler investigation, determining fetal lung volume and detection of other malformation if present by using 3D U/S. This study included 60 pregnant women [in the second half of pregnancy] who attended the high risk pregnancy clinic at El Galaa Teaching Hospital. They were classified into two group, group I [control] 20 cases and group II [test group] 40 cases subdivided group II A 20 cases with controlled diabetes and group II B 20 cases with uncontrolled diabetes. All were subjected to color Doppler investigation, 3D U/S and genetic pedigree analysis to select familiar diabetic and interpretation of the results as regards pulmonary circulation, lung volume, birth weight and outcome of pregnancy showed that Diabetes Mellitus wither controlled or not does not significantly alter the fetal pulmonary artery waveforms or fetal lung volume assessed by 3D U/S at does not affect either the fetal lung vasculature or fetal lung mass. However further studies are needed to assess the role of these recent diagnostic tools in evaluating fetal lung maturity