Just like any other baby girl, Piper from Redland Bay underwent a routine newborn screening test shortly after she was born in March 2014. When Piper’s mum, Liz, took the phone call to hear the results of that test, the last thing she expected to hear was that Piper had been diagnosed with Cystic Fibrosis (CF).
Cleft lip fact sheet Cleft lip What is a cleft lip? A cleft lip is a separation in the upper lip that occurs when parts of the lip do not join during pregnancy. This can occur on one side (unilateral cleft) or on both sides (bilateral cleft). Babies with cleft lips [...]
Cleft palate fact sheet Cleft palate What is a cleft palate? A cleft palate is when the palate fails to develop properly, causing a gap between the roof of the mouth and the floor of the nose. It can involve a hard and soft palate, the soft palate only, or the [...]
Referral guideline - Suspected neurocutaneous disorder Introduction These are multisystem disorders that have characteristic central nervous system, ocular, and cutaneous lesions of variable severity. These are multisystem disorders that have characteristic central nervous system, ocular, and cutaneous lesions of variable severity. GP management Clinical history and examination looking for: family history of neurocutaneous condition [...]
Referral guideline - Strabismus (squint) Introduction Strabismus, or ‘squint’, is a condition in which the eyes are not properly aligned with each other. One eye is either constantly or intermittently turned in (esotropia) or out (exotropia). This ocular misalignment may be accompanied by abnormal motility of one or both eyes, double vision, decreased vision, [...]
Referral guideline - Short stature Introduction Short stature – defined as having a height below the 3rd percentile for age and sex – is a common problem affecting up to 5 children out of every 100. Although this may be the normal pattern of growth for an individual child, underlying causes of poor growth [...]
Referral guideline - Recurrent tonsillitis Introduction Most sore throats are due to a viral infection. Acute bacterial tonsillitis is more likely if there are tender and enlarged cervical lymph nodes, fever and absence of coryzal symptoms. If acute bacterial tonsillitis is suspected, treat with Phenoxymethylpenicillin orally 15mg/kg/dose twice daily (Max 500mg/dose) for 10 days. [...]
Referral guideline - Recurrent bacterial otitis media Introduction Diagnosis of acute otitis media (AOM) is difficult because many children with a viral upper respiratory tract infection have mild inflammation of the middle ear, with visible reddening and dullness of the tympanic membrane. Acute otitis media is usually self-limiting (60% of children treated with placebo [...]
Referral guideline - Plagiocephaly Introduction Plagiocephaly is a term which means flattening of an infant's head shape. The vast majority of these are a result of positional moulding, known as 'deformational plagiocephaly'. Since recommendations were made to sleep infants on their backs to reduce the incidence of SIDS, there has been a dramatic increase [...]
It was during an ultrasound at 18 weeks gestation that the parents of 17-year-old Kuraby triplet, Mark, found out he had a neural tube defect, where the foetal spinal column doesn’t close completely. His parents were told they should enjoy the short time they would have with him, but Mark was a fighter from the very beginning.