Lateral facial cleft associated with accessory mandible having teeth, absent parotid gland and peripheral facial weakness.

Transverse facial cleft is a very rare malformation. The Tessier no. 7 cleft is a lateral facial cleft which emanates from oral cavity and extends towards the tragus, involving both soft tissue and skeletal components. Here, we present a case having transverse facial cleft, accessory mandible having teeth, absent parotid gland and ipsilateral peripheral facial nerve weakness. After surgical repair of the cleft in 2-month of age, improvement of the facial nerve function was detected in 3-year of age. Resection of the accessory mandible was planned in 5-6 years of age.

EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report.

EEC syndrome is characterized by ectodermal dysplasia, ectrodactyly and cleft lip and/or palate and associated anomalies such as lacrimal duct obstruction, urinary tract anomaly, and hearing loss. This syndrome is a rare autosomal dominant disorder caused by heterozygous mutations in the p63 gene. Herein, a newborn infant with EEC syndrome with secundum atrial septal defect who had a de novo mutation (c.953G > A) on exon 7 of p63 gene is presented.

The prevalence of overweight and obese children aged 6-17 years in the West Black Sea region of Turkey.

OBJECTIVE: To assess the prevalence of overweight and obese Turkish children. DESIGN: Cross-sectional study in school children. SUBJECTS: A total of 6924 children (3281 boys and 3643 girls) aged 6-17 years from the West Black Sea region of Turkey. MEASUREMENTS: Overweight and obese were defined using international age- and sex-specific cutoff points for body mass index. The data were analysed by age, sex, residence and socioeconomic level. RESULTS: The overall prevalence of overweight and obesity was 10.3% and 6.1% respectively. The overall prevalence of obesity in boys and girls was 7.0% and 5.4%, respectively, and the difference was significant (chi(2) = 8, p = 0.004). The prevalence of obesity in urban and rural areas was 7.7% and 3.9%, respectively, and the difference was significant (chi(2) = 40, p < 0.001). The prevalence of overweight boys and girls in urban areas was 11.6% and 13.2%, respectively, but the difference was not significant (chi(2) = 2, p > 0.05). However, the prevalence of overweight boys and girls in rural areas was 4.8% and 9.4%, respectively, and the difference was significant (chi(2) = 25, p < 0.001). Although the prevalence of obesity differed significantly between boys and girls in urban children (chi(2) = 13, p < 0.001), no significant difference was detected in the prevalence between boys and girls from rural areas (chi(2) = 0.4, p > 0.5). The prevalence of obesity was significantly higher in private schools than in public schools (chi(2) = 48, p < 0.0001). The prevalence of overweight and obese Turkish children aged 6-17 years is considerably lower than in most European countries. The children in urban settings and higher socioeconomic groups had a higher prevalence of overweight and obesity. The Westernisation of the behaviour patterns of children and living in an urban setting in a developing country are risk factors for obesity.

Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.

We describe a male neonate with a duplication of 4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arched palate, wide-spaced nipples, bilateral single transverse palmar creases, bilateral clinodactyly of the fifth finger, right cryptorchidism, and ventricular and secundum type atrial septal defect.

Partial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonate.

We describe a male neonate with a duplication of 1(q25qter) due to de novo unbalanced translocation (1;19)(q25;pter). He had macrocephaly, wide sutures and wide anterior fontanelle, bilateral temporoparietal bossing, downward slanting palpebral fissures, low set, posteriorly rotated ears, downturned mouth corners, thin upper lip, retrognathia, high arched palate, triangular face, widely spaced nipples, bilateral single transverse palmar creases, bilateral partial syndactyly between second and third toes, ventricular dilatation, corpus callosum hypoplasia, and cavum septi pellucidi and cavum vergae, ventricular and atrial septal defects.

A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.

A novel Fryns "anophthalmla-plus" syndrome associated with primary hypothyroidism: Here, we report a newborn male with "anophthalmia-plus" syndrome and primary congenital hypothyroidism. To our knowledge this is the first case of 'anophthalmia-plus' syndrome associated with congenital hypothyroidism in the literature up to date.

Does hepatic subcapsular calcification in a premature baby reflect disease?

We followed a premature baby with hepatic subcapsular calcification of unknown etiology. Results of clinical and laboratory investigations and growth of the patient were normal. The causes of this condition are discussed and we suggest that it does not necessarily reflect disease.

Periumbilical skin length measurements in the newborn.

Normal limits of periumbilical skin were determined in 304 newborn babies in the first 24 h. Cranial umbilical skin (SD) was 12.36 (3.23) mm and caudal umbilical skin (SD) was 8.76 (3.10) mm on the average. It is recommended that cranial umbilical skin measurement should be included in the examination of dysmorphic neonates, and those with cranial skin length above 18.82 mm (> 2 SD) should be carefully evaluated for Rieger syndrome.

Lactational failure--study of risk factors in Turkish mothers.

Risk factors for lactational failure in puerperium were investigated. Sixty mothers with inadequate daily milk supply for their babies were the lactational failure group, and 60 mothers with similar age having babies with similar age and weight were chosen as the control group. Low prolactin levels, low serum iron and low serum ferritin levels and low aldosterone values and birth in community hospitals were associated with significantly increased risk of deficient lactation. High income of the family, increase osmolality of breastmilk, high systolic blood pressure of the mother, birth by cesarean section were some of the variables that increased the risk that could not reach the level of significance. Prematurity of the baby was not among the risk factors if the gestational ages were more than 30 weeks. It is concluded that physicians awareness of the factors that may adversely effect the initiation and continuation of lactation is vital. Correcting iron deficiency even if it is not overt, sparing more time for the mothers discussing the benefits of breastmilk to their babies, and avoiding cesarean section if possible may help increase the incidence of breastmilk feeding.

Plasma chromium levels in hypoglycemic preterm, full-term and in intrauterine-growth-retarded babies.

Serum chromium levels of hypoglycemic preterm and full-term babies were investigated. Normoglycemic preterm and full-term babies were selected as the control group. There was no statistically significant difference in serum Cr levels between preterm and full-term, hypoglycemic and normoglycemic, preterm hypoglycemic and preterm normoglycemic, full-term hypoglycemic and full-term normoglycemic babies. Serum Cr levels of intrauterine-growth-retarded babies were relatively low compared to infants appropriate for gestational age. Serum Cr levels of babies with mothers younger than 35 years of age had significantly lower levels than older mothers' babies.

[Urinary tract infections in children]. / Cocukluk yas grubunda idrar yolu enfeksiyonlari.

The diagnosis of urinary tract infections were established on fifty children in our hospital in the last year. Most of the patients were between the age of 1-12 month (28 cases, 56%). The ratio of female/male was 3.5. Fever was the most common symptom (17 cases, 34%). In the routine urinalysis, proteinuria and pyuria were revealed in 11 cases (22%), and 44 cases (88%), respectively. E. coli was the most common microorganism isolated from urine cultures (70%). Twenty-two patients were regularly followed up and recurrence was observed in 7 patients (32%).

[Neonatal sepsis]. / Yenidogan sepsisi.

We noticed coagulase positive staphylococcus is the most common pathogen in the neonatal sepsis in our neonatology unit. We followed 22 cases with neonatal sepsis. Blood cultures revealed coagulase staphylococcus in 9 cases, coagulase negative staphylococcus in 6 cases, Pseudomonas spp. in 5 cases, E. coli in 1 case, Klebsiella spp. in 1 case. The most common symptom was apnea. CRP positivity was noted in 15 cases (68.2%) while increase in immature/total neutrophil ratio was observed in 12 cases (54.5%). However, we detected leukopenia in 2 cases (9.1%). Also, the birthweight of the cases died due to neonatal sepsis were below 2000 gr.