Cerebro‐costo‐mandibular syndrome: A case report

Özkınay, Ferda; Çoğulu, Özgür; Gündüz, Cumhur; Çankaya, Tufan; Ozkinay, Cihangir

doi:10.1046/j.1442-200x.2001.01430.x

Cited by 4 publications

(3 citation statements)

References 11 publications

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“…The patients who survive their neonatal period may suffer from growth retardation, scoliosis, reduced lung capacity, dentition anomaly, feeding disturbance, mental retardation, conductive hearing loss, and language disturbance according to growth (Hosalkar et al 2000). They require continuous systematic medical support, and there are reports about a patient who survived for a long time with severe symptoms (Hosalkar et al 2000;Özkinay et al 2001).…”

Section: Discussionmentioning

confidence: 99%

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Cerebro‐costo‐mandibular syndrome: Prognosis and proposal for classification

Nagasawa

Yamamoto

Kohno

2010

Congenital Anomalies

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Cerebro-costo-mandibular syndrome (CCMS) is a very rare syndrome characterized by micrognathia and posterior rib gap, with a poor prognosis. To date, only 75 cases have been reported worldwide. The overall survival rate for patients with this disorder has not been reported, and a classification of the patients on the basis of the prognosis is not yet available. The present study analyzed the figures and prognoses of past patients and documented a new case of CCMS. Formerly published case reports and personal communications were used to reveal the prognosis and classification of CCMS. The occurrence ratios of rib gap defects and of missing ribs were examined. Patients were divided into the following three groups according to their life span: lethal type, where the patients died before 1 month; severe type, where the patients lived for 1-12 months; and mild type, where they survived for more than 1 year. A comparison was made of the number of rib gaps, missing ribs, and the rib gap ratio (defined as the number of rib gaps divided by the number of all existing ribs) among these three groups. A significant difference in the number of rib defects between the lethal type and other types was noted. Short life span of severe type patients, compared to mild type, was attributed to their subjection to severe respiratory infection. CCMS can be classified into three categories--lethal, severe, and mild--according to the severity of the symptoms and prognosis.

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Section: Discussionmentioning

confidence: 99%

“…They require continuous systematic medical support, and there are reports about a patient who survived for a long time with severe symptoms (Hosalkar et al . 2000; Özkinay et al . 2001).…”

Section: Discussionmentioning

confidence: 99%

Cerebro‐costo‐mandibular syndrome: Prognosis and proposal for classification

Nagasawa

Yamamoto

Kohno

2010

Congenital Anomalies

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“…Most babies died because of respiratory distress. Although brain anomalies are uncommon in CCMS, hypoxia may cause neurodevelopmental disorders (9,10).…”

Section: Discussionmentioning

confidence: 99%

Proper Interventions in a Newborn with Cerebro-Costo-Mandibular Syndrome

Bayraktar¹,

Bayraktar²,

Karacanoğlu³

et al. 2018

Bezmialem Science

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Cerebro-costo-mandibular syndrome is characterized by severe micrognathia with glossoptosis, short to cleft soft palate, bell-shaped small thorax with gaps between the posterior ossified rib and anterior cartilaginous rib and postnatal growth and mental deficiency. We present the clinical course and the early aggressive treatment of a newborn diagnosed as cerebro-costo-mandibular syndrome. The management of the patients with this syndrome is important over the morbidity and mortality. Most babies died due to respiratory distress. Although brain anomalies are uncommon in cerebro-costo-mandibular syndrome, hypoxia may cause neurodevelopmental disorders. In this case report, we emphasize the importance of proper ventilation and feeding in patients with cerebro-costo-mandibular syndrome to maintain normal development. Multidisciplinary approach is essential in monitoring of these patients.

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Consideration of the thoracic phenotype of cerebro‐costo‐mandibular syndrome

Keeling,

Williams,

Itasaki

2023

Clinical Anatomy

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Cerebro‐costo‐mandibular syndrome (CCMS) is a congenital condition with skeletal and orofacial abnormalities that often results in respiratory distress in neonates. The three main phenotypes in the thorax are posterior rib gaps, abnormal costovertebral articulation and absent ribs. Although the condition can be lethal, accurate diagnosis, and subsequent management help improve the survival rate. Mutations in the causative gene SNRPB have been identified, however, the mechanism whereby the skeletal phenotypes affect respiratory function is not well‐studied due to the multiple skeletal phenotypes, lack of anatomy‐based studies into the condition and rarity of CCMS cases. This review aims to clarify the extent to which the three main skeletal phenotypes in the thorax contribute to respiratory distress in neonates with CCMS. Despite the posterior rib gaps being unique to this condition and visually striking on radiographic images, anatomical consideration, and meta‐analyses suggested that they might not be the significant factor in causing respiratory distress in neonates. Rather, the increase in chest wall compliance due to the rib gaps and the decrease in compliance at the costovertebral complex was considered to result in an equilibrium, minimizing the impact of these abnormalities. The absence of floating ribs is likely insignificant as seen in the general population; however, a further absence of ribs or vestigial rib formation is associated with respiratory distress and increased lethality. Based on these, we propose to evaluate the number of absent or vestigial ribs as a priority indicator to develop a personalized treatment plan based on the phenotypes exhibited.

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Cerebro‐costo‐mandibular syndrome: A case report

Cited by 4 publications

References 11 publications

Cerebro‐costo‐mandibular syndrome: Prognosis and proposal for classification

Cerebro‐costo‐mandibular syndrome: Prognosis and proposal for classification

Proper Interventions in a Newborn with Cerebro-Costo-Mandibular Syndrome

Consideration of the thoracic phenotype of cerebro‐costo‐mandibular syndrome

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