Total Absence of Ribs in a Newborn with Cerebrocostomandibular Syndrome

Lale, S.; Ardinger, Holly H; Mardis, Neil; Changho, Sheelah; Lancaster, Thomas; Singh, Vivekanand

doi:10.2350/09-11-0745-cr.1

Cited by 2 publications

(1 citation statement)

References 13 publications

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“…Full text and images were not available Excluded (Özahi et al, 2002;Padovani et al, 1982;Surka et al, 1999) Information insufficient to judge the phenotype (insufficient description, unclear image, no full-chest image, no information on the survival length) Excluded (Blaas et al, 1993;Farriaux & Poupard, 1978;Feldman & Heyman, 1987;Kang et al, 1992;Morin et al, 2001;Tanyeri et al, 2018;Winter & Bloom, 1999) Causal mutations in other genes than SNRPB and hence not diagnosed as CCMS Excluded (Legare et al, 2017;Zeevaert et al, 2009) Costovertebral joint defects without rib gap Excluded (Neelam & Sudhir, 2021) No ribs or underdeveloped ribs in the fetus/too young gestational stage/ premature birth Excluded (Fidalgo-Alvarez et al, 1988;Hennekam & Goldschmeding, 1998;Ibba et al, 1997;Kirk et al, 1999;Lale et al, 2011;Megier et al, 1998;Sahyoun et al, 1998;Song et al, 1993) Reporting follow-up only/follow-up cases and new cases without sufficient information Excluded (Doyle, 1969;Schrander-Stumpel et al, 1996;van den Ende et al, 1998) Analyzed in this study (90 cases in 60 papers in total)…”

Section: Included or Excluded Referencesmentioning

confidence: 99%

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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Section: Included or Excluded Referencesmentioning

confidence: 99%

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

Keeling,

Williams,

Itasaki

2023

Clinical Anatomy

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Spliceosomopathies and neurocristopathies: Two sides of the same coin?

Beauchamp

Alam

Kumar

et al. 2020

Developmental Dynamics

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Mutations in core components of the spliceosome are responsible for a group of syndromes collectively known as spliceosomopathies. Patients exhibit microcephaly, micrognathia, malar hypoplasia, external ear anomalies, eye anomalies, psychomotor delay, intellectual disability, limb, and heart defects. Craniofacial malformations in these patients are predominantly found in neural crest cells‐derived structures of the face and head. Mutations in eight genes SNRPB, RNU4ATAC, SF3B4, PUF60, EFTUD2, TXNL4, EIF4A3, and CWC27 are associated with craniofacial spliceosomopathies. In this review, we provide a brief description of the normal development of the head and the face and an overview of mutations identified in genes associated with craniofacial spliceosomopathies. We also describe a model to explain how and when these mutations are most likely to impact neural crest cells. We speculate that mutations in a subset of core splicing factors lead to disrupted splicing in neural crest cells because these cells have increased sensitivity to inefficient splicing. Hence, disruption in splicing likely activates a cellular stress response that includes increased skipping of regulatory exons in genes such as MDM2 and MDM4, key regulators of P53. This would result in P53‐associated death of neural crest cells and consequently craniofacial malformations associated with spliceosomopathies.

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Total Absence of Ribs in a Newborn with Cerebrocostomandibular Syndrome

Cited by 2 publications

References 13 publications

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

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

Spliceosomopathies and neurocristopathies: Two sides of the same coin?

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