Prenatal ultrasonographic diagnosis of the cerebro–costo–mandibular syndrome: case report and review of the literature

Megier, P.; Ayeva‐Derman, Michael; Espérandieu, O; Aubry, Marie‐Cecile; Couly, G; Desroches, Alain

doi:10.1002/(sici)1097-0223(199812)18:12<1294::aid-pd433>3.3.co;2-o

Cited by 3 publications

(3 citation statements)

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“…Patients with CCMS have a narrow chest and striking posterior rib gaps which distinguish this condition. CCMS was first described 50 years ago [Smith et al, ] and over 80 cases have been reported to date [Kringelbach and Hendriksen, ; Doyle and McNicholl, ; McNicholl et al, ; Miller et al, ; Williams and Sane, ; Harris and Fellows, ; Silverman et al, ; Leroy et al, ; Hennekam et al, ; Merlob et al, ; Drossou‐Agakidou et al, ; Plotz et al, ; Ibba et al, ; Megier et al, ; van den Ende et al, ; Kirk et al, ; Beluffi et al, ; Flodmark and Wattsgård, ; Morin et al, ; James and Aftimos, ; Wilcox and Tatum, ; Frulio et al, ; Oestreich and Stanek, ; So et al, ; Su et al, ; Lynch et al, ; Watson et al, ; Bacrot et al, ; Ramaswamy et al, ].…”

Section: Introductionmentioning

confidence: 99%

Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

Tooley

Lynch

Bernier

et al. 2016

American J of Med Genetics Pt A

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Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial archderivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo-transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and SNRPB mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results

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Section: Introductionmentioning

confidence: 99%

Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

Tooley

Lynch

Bernier

et al. 2016

American J of Med Genetics Pt A

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“…The only method using in prenatal diagnosis is ultrasonographic examination. Megier et al reported a case with CCMS diagnosed prenatally for the first time 8 . Polyhydramnios and a very unusual shape of the ribs were documented as ultrasonographic findings of CCMS 8,9 …”

Section: Discussionmentioning

confidence: 99%

Cerebro‐costo‐mandibular syndrome: A case report

Özkınay

Çoğulu

Gündüz

et al. 2001

Pediatrics International

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“…Cerebrocostomandibular syndrome was diagnosed on the basis of micrognathia, a posterior cleft palate defect, and characteristic rib gap abnormalities (not shown) in the neonate. 6,7 A B Figure 2. Pierre Robin sequence (case 1), 18.9 menstrual weeks.…”

Section: Discussionmentioning

confidence: 99%

Three-dimensional Ultrasonographic Presentation of Micrognathia

Lee

McNie

Chaiworapongsa

et al. 2002

Journal of Ultrasound in Medicine

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Objective. To present the variable appearance of micrognathia in fetuses by three-dimensional ultrasonography and to describe practical methods for analysis of these volume data. Methods. Threedimensional multiplanar imaging and surface-rendering techniques were used to show various syndromes and diagnostic approaches for the evaluation of fetal micrognathia. Results. Nine cases of fetal micrognathia are presented. Orthogonal multiplanar views were used to obtain a midsagittal facial profile. Examples of micrognathia include 3 cases of Pierre Robin sequence, cerebrocostomandibular syndrome, Cornelia de Lange syndrome, and hypochondrogenesis. Diagnostic pitfalls for micrognathia are also shown. Conclusions. Three-dimensional multiplanar imaging increases the likelihood that a true midline sagittal view of the facial profile is being analyzed. Surface rendering provides another way to qualitatively evaluate the fetal chin from different viewing perspectives. Three-dimensional ultrasonographic methods are useful adjuncts to the preliminary diagnostic impression from two-dimensional ultrasonography.

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Prenatal ultrasonographic diagnosis of the cerebro–costo–mandibular syndrome: case report and review of the literature

Cited by 3 publications

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Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

Cerebro‐costo‐mandibular syndrome: A case report

Three-dimensional Ultrasonographic Presentation of Micrognathia

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