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 later X-ray was reported as showing interrupted posterior ribs. A tracheostomy was formed on day of life 9 given the immediate risk to the baby's airway. Further imaging of the facial bones, skull and brain showed generous CSF spaces over the cerebral convexities and also marked hypoplasia of the mandible and mid-face. The baby's middle ear cavities were shown to be completely opacified. Genetic testing eventually went on to confirm a diagnosis of cerebrocostomandibular syndrome, with the detection of a pathogenic variant of the small nuclear ribonucleoprotein polypeptide B gene.

Do preterm bones still break? Incidence of rib fracture and osteopenia of prematurity in very low birth weight infants.

AIM: Extremely premature babies are at risk of osteopenia of prematurity (OOP) as bone mineralisation in utero increases exponentially after 24 weeks gestation. Our aim was to assess the bone health of very low birth weight (VLBW) infants. We wanted to establish the incidences of OOP and rib fracture. We also looked at which biochemical markers best predicted OOP. Bone health in this vulnerable population is an important aspect of management which should not be overlooked. METHODS: This was an observational study which included all VLBW infants, born in a national maternity hospital, over a 5-year period. All X-rays performed on these infants were reviewed. Data were also collected on biochemical markers associated with bone health. The medical records of infants with rib fractures were reviewed looking for causes of bone fragility. RESULTS: Of the 609 VLBW infants included in the study, only two cases of definitive rib fractures were found. This represents a rib fracture incidence of 3 per 1000. Thirty-nine percent of VLBW babies showed radiological evidence suggestive of OOP. CONCLUSION: Our findings show a lower rate of rib fracture in preterm infants compared to previous evidence. We also showed that these fractures were not evident on the final X-ray prior to discharge. This implies that when an ex-preterm infant presents to the emergency department with a rib fracture there should be an even higher suspicion for non-accidental injury than previously thought.

International Interdisciplinary Consensus Meeting on the Evaluation of Developmental Dysplasia of the Hip.

In September 2018, an international meeting of doctors of various disciplines, with expertise in the detection and treatment of DDH, was held in Csolyospalos, Hungary. The aim was to achieve consensus on the detection and early treatment of the condition and to develop a standardized system of teaching and training for hip ultrasound. There was strong agreement that US screening is essential. Specifically the Graf technique was selected as the technique of choice. Universal US screening was strongly favored. Screening should be carried out as soon as possible, but not later than the sixth week of age. US screening is cost-effective, does not result in overtreatment, and contributes to a reduction of long-term consequences. The essential principle of treatment is timely application of a device to achieve reduction, retention and maturation, by holding the hips in flexion, and a safe degree of abduction. It was agreed that the effectiveness of any screening policy depends on the correct scanning technique. Therefore, standardization of teaching and training of the Graf technique is mandatory. A unified teaching policy and materials should be developed for this purpose. Certification, re-certification and audit were discussed. The group, which has been formalized as the International Interdisciplinary Consensus Committee On DDH Evaluation (ICODE), will continue to meet and work towards establishing international consensus on DDH, standardizing and developing teaching and training of the Graf technique for hip US, and maintaining standards for detection and management.

Microcephaly: a radiological review.

Microcephaly results from inadequate brain growth during development. It may develop in utero, and therefore be present at birth, or may develop later as a result of perinatal events or postnatal conditions. The aetiology of microcephaly may be congenital (secondary to cerebral malformations or metabolic abnormalities) or acquired, most frequently following an ischaemic insult. This distinct radiological and pathological entity is reviewed with a specific focus on aetiology.