VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin.

The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities (13). We report a rare case of a monochorionic twin gestation in which one of the infants had VACTERL association. Antenatal ultrasound showed bilateral renal dysplasia and cardiac anomaly (ASD) in twin A. Twin A was noted to have the following anomalies: a single umbilical artery, limb anomaly (right hand preaxial polydactyly), vertebral anomalies (T9 and T11 butterfly vertebras, bilateral renal agenesis, bladder agenesis, anal and urethral atresia. A normal-sized stomach and normal amount of amniotic fluid were observed during the prenatal period with no other anomalies. Twin B (male) was healthy and no cardiac, renal, or congenital anomalies were demonstrated on ultrasound and physical examination. Infant A was also diagnosed as having VACTERL association because he had five of the core anomalies (V, A, C, R, L) of VACTERL association. Butterfly vertebra is an uncommon congenital spinal anomaly. To the best of our knowledge, our patient is the second case VACTERL association with butterfly vertebra in the literature.

A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma.

We report a case of a female baby born at 34 weeks of gestation. Birth weight was 1760 g (10th-25th centile), length 41cm (10th-25th centile) and head circumference 27cm (< 10th centile). Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short neck, preaxial polydactyly of the right hand, and overriding toes. Investigations showed bilateral congenital glaucoma, alobar holoprosencephaly, severe ventriculomegaly and absence midline structures of the brain, a large atrial septal defect. The karyotype was 46,XX. The case was also diagnosed as having holoprosencephaly-polydactyly syndrome (pseudotrisomy 13) because she had alobar holoprosencephaly, preaxial polydactyly, facial dysmorfism (hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears) and normal karyotype.

Bamforth syndrome: is porencephaly a new finding?

Bamforth syndrome is a rare inherited condition whose main features are congenital hypothyroidism due to thyroid dysplasia, cleft palate, and spiky hair, with or without choanal atresia and bifid epiglottis. This syndrome is caused by mutations in the gene encoding thyroid transcription factor 2 (TTF-2). Here we report on a newborn with facial dysmorphism, cleft palate, spiky hair, congenital hypothyroidism and that are observed with Bamforth syndrome. This is the first case with Bamforth syndrome in which porencephaly has been observed.

De novo terminal 4q deletion syndrome with new ocular findings in Turkish twins: case report.

The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. Herein we report cases of twins (karyotype 46, XY) carrying terminal deletion of the chromosome 4 (q31qter) segment resulting in craniofacial dysmorphism, skeletal anomalies, ocular findings and cardiac defect.

Oral hypertonic glucose spray: a practical alternative for analgesia in the newborn.

AIM: Pain and stress have been shown to induce significant physiological and behavioural reactions in newborn infants. Pharmacological agents are not recommended in neonates for pain relief in minor procedures. Since different sweet solutions given orally by syringe have been shown to relieve pain in neonates, we decided to compare the analgesic effects of a small dose of glucose solution given orally by spray and by syringe during heel lancing in term neonates, using a validated behavioural acute pain rating scale. METHODS: Sixty hyperbilirubinaemic full-term neonates were studied. We used a randomized, masked, placebo-controlled, crossover trial. Each infant was assessed three times receiving 0.5 ml 30% glucose in spray form, 0.5 ml 30% glucose by syringe or 0.5 ml sterile water by syringe in random order, 2 min before heel lancing. RESULTS: Pain scores were significantly lower in the 30% glucose given either spray or syringe groups compared with the placebo group. No statistically significant difference in pain scores was found between the 30% glucose spray group and 30% glucose syringe group. CONCLUSIONS: A small dose of 0.5 ml 30% glucose spray has an equal analgesic effect to the same dose given by syringe. The spray form has the advantage of being easy to use and is well accepted by newborn babies.

Hepatitis agents with enteric transmission--an epidemiological analysis.

BACKGROUND: Viral hepatitis is characterized by special clinical, biochemical and serological findings. This study was planned to determine the seroprevalence, epidemiological characteristics and clinical and biochemical findings of hepatitis A virus (HAV) and hepatitis E virus (HEV) infections during an outbreak of jaundice. MATERIALS AND METHODS: 340 children aged 5-16 years were included. Clinical findings and alanine aminotransferase (ALT) levels were documented. Anti-HAV IgG and IgM in addition to anti-HEV IgG and IgM were determined by microELISA. RESULTS: Clinical findings, high levels of ALT, anti-HAV IgM and IgG, anti-HEV IgM and IgG were present in 6%, 23%, 17%, 100%, 7% and 9% of cases, respectively. The relationship between ALT levels and anti-HAV or anti-HEV IgM seropositivity was significant (p

Tetra-oligodactyly with bilateral aplasia and hypoplasia of long bones of upper and lower limbs: a variable manifestation of the syndrome of ectrodactyly with tibial aplasia.

We present, a family manifesting a variation of the syndrome of ectrodactyly with tibial apasia. The principal case in the family showed the most severe bilateral skeletal malformations of this syndrome. The hand changes of this case (tetra-oligodactyly with missing 5th rays) and of a relative (oligodactyly with the last 3 rays being affected) reflected a variable manifestation of "ectrodactyly". Additionally, a review of the relevant literature is presented for further delineation of various aspects of this syndrome.