CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.

We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with CHARGE syndrome and are well described in previous studies.

Changes in Mortality and Cerebral Palsy in Extremely Low-Birth-Weight Infants in a Tertiary Center in Hong Kong.

. We retrospectively reviewed a cohort of extremely low-birth-weight (ELBW) babies born at Queen Mary Hospital and explored if there is any time trend in survival and short-term neurodevelopmental outcomes. .

Rare combination of left-sided congenital diaphragmatic hernia and omphalocele.

We reported a rare case of left-sided posterolateral congenital diaphragmatic hernia (CDH) and omphalocele, which is not associated with chromosomal abnormalities or other syndromes. Omphalocele was detected antenatally (CDH was not detected in antenatal ultrasound). The patient suffered from respiratory failure secondary to severe pulmonary hypertension.

Cardiac Mechanics in Children with Bronchopulmonary Dysplasia.

Background: Disruption of pulmonary vasculogenesis occurs in bronchopulmonary dysplasia (BPD). Increased impedance to pulmonary flow secondary to abnormal vascular development may affect ventricular mechanics.

Objectives: We aimed to test the hypothesis that cardiac mechanics are altered in prematurely born children with BPD.

Bacillus bloodstream infections in a tertiary perinatal centre: an 8-year study.

Background: Isolates of nonanthrax Bacillus species in clinical samples are frequently considered as contaminants. However, there were case reports describing Bacillus sepsis among infants, associated with high mortality and morbidity.

Methods: We performed a retrospective review of the clinical and epidemiological features of Bacillus bacteremia at our neonatal intensive care unit from January 2002 to December 2009.

Review of primary hypothyroidism in very low birthweight infants in a perinatal centre in Hong Kong.

Aims: To review the incidence and risk factors of primary hypothyroidism in very low birthweight (VLBW) infants in our centre and to assess their neurodevelopmental outcome.

Method: Retrospective, descriptive review of VLBW infants with primary hypothyroidism from 1 January 2000 to 31 December 2008 in a perinatal centre. Case control comparisons for neurodevelopmental outcome at 18 months, nested to a prospective VLBW cohort (Vermont Oxford Database).