Two cases of Noonan syndrome are observed. The Noonan syndrome is a Turner-like syndrome with normal chromosomal constitution. Essential criteria in diagnosing the syndrome are the facial expression (hyper-telorisme, low-set and malformed ears, micrognathie, fish-like mouth). The short webbed neck and the cubitus valgus. These children are rather small and mental retardation can be present, especially in comparison with their siblings. Associated cardiac malformations occur in approximately 50% of the cases. We insist on audiologic findings. One case has a hearing impairment due to a malformation of the middle ear, recognised radiologically. The other has a deafness of perception type. Yet, the familial occurrence of last patient makes it doubtful whether this hearing loss can be linked to the Noonan-syndrome.

The Noonan syndrome

Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ∼50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy.

Noonan syndrome: Noonan syndrome

Noonan syndrome is a congenital, common, hereditary disorder. Facial dysmorphism, growth retardation, and various heart defects are typical clinical features. In patients with minor cardiac pathology, life expectancy is normal. We report a case of renal transplant in a pediatric patient with Noonan syndrome that ended with death of the patient. Our patient presented with unexpected and refractory postoperative neurological complications that were unresponsive to intensive therapy, and the patient died because of secondary complications.

Fatal outcome after renal transplant in a pediatric patient with Noonan syndrome.

Typical cleft hand is a rare disorder usually inherited in an autosomal-dominant manner. We report a case of bilateral typical cleft hand in a 6-year-old male. There was no positive family history of such presentation, and no systemic manifestations were associated with this entity. Preanesthetic evaluation revealed no systemic or airway challenges and parents were counseled for routine surgical and anesthetic risks. The hands underwent successful surgical reconstruction with no peri-operative complications. To the best of our knowledge, this is the first report of an operated case of an isolated, bilateral, and sporadic typical split hand malformation.

Isolated sporadic bilateral split hand malformation: a case report and review of the literature

Noonan syndrome is characterized by distinctive facial features, short stature, and congenital heart disease. It is a congenital genetic disorder with a prevalence of between 1/1,000 and 1/2,500 in both genders. An 11-year-old boy with Noonan syndrome visited the hospital with an ectopically positioned tooth. A pulmonary stenosis was diagnosed and his growth and development were delayed. In many cases of this diseases there is obvious hemostasis, which he was not experiencing. His facial appearance showed characteristic features of Noonan syndrome. The patient showed a dental class II relationship, labioversion of the upper anterior teeth, and a shallow overbite. Radiographic examination revealed that the upper right canine was ectopically positioned, which led to root resorption of the upper right lateral incisor. A lateral cephalometric radiograph revealed a craniofacial pattern that was within normal limits. Surgical opening and button attachment on the impacted upper right canine were performed and traction was applied on the impacted tooth using a removable appliance. This patient was mildly affected by Noonan syndrome and showed some dental problems. However, few studies have reported the oral characteristics of Noonan syndrome despite its high incidence. Thus, this case report describes the oral features and management of Noonan syndrome.

/pdf/oral-features-in-a-child-with-noonan-syndrome-a-case-report-4mioa6mbjk.pdf

Oral Features in a Child with Noonan Syndrome : A Case Report

Epidural anesthesia is one of the easier and safer techniques for lower abdominal surgery. It has a very high success rate in the experienced hands, and failure rates are minimal when it is administered by the experienced anesthesiologists. As it is a blind technique, failures can be encountered even by a senior anesthesiologist in many situations and one must analyze retrospectively the various causes responsible for such failures. We report a case of 45-year-old female, weighing 60 kg, who was scheduled for elective vaginal hysterectomy under regional anesthesia. Initial four to five attempts were unsuccessful in establishing the epidural block as the epidural injection encountered bony resistance each time, but subarachnoid block could be achieved with a 23 G spinal needle in the paramedian site of entry in the third attempt. Postoperatively, lumbar and cervical spine X-rays were done which revealed an isolated lumbar spine bony fusion. She was diagnosed as a rare case of isolated lumbar spine fusion without any involvement of cervical spine, other articular joints or any systemic manifestations of diseases like ankylosing spondylitis.

Anaesthetic management of a vaginal hysterectomy case with an unanticipated failure of epidural injection due to fused lumbar spine.

Noonan syndrome is a genetically transmitted autosomal dominant disorder characterized by various anatomic anomalies and pathophysiologic derangements. Anesthetic management in such cases poses a multitude of challenges, especially related to the airway management and maintenance of cardiovascular stability. We report a case of a 9-year-old male child weighing 24 kg, who was diagnosed as a case of Noonan syndrome and had undergone ligation of patent ductus arteriosus during early childhood. The child was operated on for release of bilateral neck bands under general anesthesia. The case report pertains to the successful airway and anesthetic management in the background of difficult airway and existence of various cardiac lesions.

Anesthetic considerations and difficult airway management in a case of Noonan syndrome.

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Anaesthetic management of a vaginal hysterectomy case with an unanticipated failure of epidural injection due to fused lumbar spine.

Anesthetic considerations and difficult airway management in a case of Noonan syndrome.