Cerebrocostomandibular syndrome: a diagnostic challenge.

A male infant born in a tertiary maternity facility was noted to have microretrognathia, a small mouth and macroglossia at delivery. He was born limp and apnoeic and required multiple attempts at intubation before a definitive airway was eventually sited. Chest X-rays, while in the paediatric intensive care unit, demonstrated dysplastic ribs with associated 'high-riding' clavicles.

A Case of Aplasia Cutis Congenita in the Setting of Maternal Carbimazole Use in the First Trimester.

Aplasia cutis congenita (ACC) is one of several congenital malformations associated with antithyroid/thiourylene drug use in pregnancy. While uncommon among the general population (1-3/100 000 cases), the risk among those on thiourylenes is between 1.6% and 3%.

The full blood count in screening asymptomatic infants for early-onset sepsis: A cross-sectional study.

Aim: The full blood count (FBC) is commonly measured as part of a partial septic work-up in asymptomatic infants at increased risk of early-onset neonatal sepsis (EOS). To determine the impact of FBC parameters on infants' subsequent management a retrospective cross-sectional study was performed.

Methods: Infants, born at ≥34 weeks gestation, asymptomatic at birth, undergoing a partial septic work-up and receiving prophylactic antibiotics due to increased risk of EOS in a single centre over a 2-year period, were included.

Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre.

Unlabelled: Inborn errors of metabolism are an individually rare but collectively significant cause of mortality and morbidity in the neonatal period. They are identified by either newborn screening programmes or clinician-initiated targeted biochemical screening. This study examines the relative contribution of these two methods to the identification of inborn errors of metabolism and describes the incidence of these conditions in a large, tertiary, neonatal unit.

Feeding practices and the prevalence of cow's milk protein allergy in Irish preterm infants.

Background: The prevalence of cow's-milk protein allergy (CMPA) is between 2% and 3% and symptoms vary depending on underlying immune mechanism at play. Breast milk is the optimal nutrition for premature infants and breast milk fortifiers (BMF) are commonly used to optimise growth and nutrition. BMF are typically derived from cow's milk and, as such, preterm infants are exposed to cow's milk in the first weeks of life.

Parent experience of Beads of Courage program in a neonatal intensive care unit.

Aim: The neonatal intensive care unit can be a stressful environment for parents. The Beads of Courage program is an arts-in-medicine, psychosocial intervention, designed to strengthen and support children and families who are coping with serious or life-threatening illness. We hypothesised that the program would improve the parent experience in the neonatal unit.

Experience of low-dose dexamethasone use in the respiratory management of ichthyosis prematurity syndrome.

Ichthyosis prematurity syndrome (IPS) is a rare disorder of autosomal recessive inheritance. The cardinal features include prematurity, vernix like hyperkeratosis, eosinophilia and neonatal asphyxiation. This case report discusses the presentation and management of IPS.

Severe hypothyroidism following a single topical exposure to iodine in a premature neonate.

A neonate, born at 24 weeks, underwent a patent ductus arteriosus ligation, with previous normal thyroid stimulating hormone (TSH) levels, developed severe hypothyroidism from topical exposure to iodine following a single surgical procedure at 28 days of life. A low free T4 level of 0.05 ng/dL and a high TSH level of 228 mIU/L was detected with an increased urinary iodine excretion level of 178 mg/L (reference range 0.

Neonatal thyroid storm: the importance of an accurate antenatal history.

A near-term infant became unwell immediately after birth with cardiorespiratory compromise-persistent tachycardia, pulmonary hypertension and reduced cardiac function. There had been no concerns during the pregnancy and the obstetrical and maternal medical history was unremarkable apart from hypothyroidism. A thyroid function test on admission revealed a significantly elevated free T4 and a diagnosis of a thyroid storm was made.

Optic Nerve Hypoplasia and Crouzon Syndrome.

Crouzon syndrome is the most common cause of syndromic craniosynostosis. The authors present a previously unreported association between Crouzon syndrome and optic nerve hypoplasia. A male infant was transferred to the center for treatment of respiratory distress.

Congenital hypofibrinogenaemia: a presymptomatic detection of an extremely rare bleeding disorder in preterm twins.

Twenty-eight-week-old preterm monochorionic-diamniotic twins were admitted to the neonatal intensive care unit secondary to low birth weight and mild respiratory distress syndrome. A low fibrinogen level of less than 0.5 g/L was detected following an abnormal full blood count.

Ocular dermoid in Pai Syndrome: A review.

Pai Syndrome is a rare congenital malformation syndrome of unknown cause with hypertelorism, midline cleft lip, nasal and facial polyps, ocular anomalies and the presence of distinctive lipomas adjacent to the corpus callosum. Herein, we present an infant girl with Pai Syndrome diagnosed in the first week of life with typical facial findings and associated pericallosal lipoma identified on cranial ultrasound and brain MRI. These typical features identified included median cleft of the upper lip (in her case as a forme fruste) with a cleft alveolus and a mid-anterior alveolar process congenital polyp.