15 Cerebro-costo-mandibular Syndrome
CCM, rib-gap syndrome
Microcephaly, mental retardation, palatal defects, micrognathia, glossoptosis, deformed chest
Frequency: Rare.
Genetics
Autosomal dominant (OMIM 117650); sibs recur- rence probably due to germinal mosaicism.
Clinical Features
• Intrauterine and postnatal growth retardation
• Neonatal respiratory distress
• Developmental retardation
• Cerebral defects
• Microcephaly (35%)
• Cleft palate (65%),absent uvula,glossoptosis (65%)
• Severe micrognathia (all cases)
• Narrow chest, severe costovertebral anomalies
• Mental retardation Differential Diagnosis
• Other syndromes with costovertebral anomalies
• Spondylocostal dysplasia
• Robin sequence
Radiographic Features Skull
• Microcrania
• Severe micrognathia
• Dental defects Chest
• Narrowed upper thorax
• Bilateral posterior rib gaps (most frequent between 3rd and 7th thoracic segments)
• Defective rib calcification, with absence of 12th ribs (70%) or other lower ribs
• Abnormal costovertebral articulations
Spine
• Vertebral anomalies (not mandatory)
• Scoliosis Extremities
• Subluxation of the elbows
• Abnormal phalanges of the toes
• Hip dislocation
• Stippled epiphyses (not mandatory) Pelvis
• Internal rotation of the iliac bones
Bibliography
Beluffi G, Perotti G, Marazzini PM. Cerebro-costo-mandibular syndrome. A case report. Radiol Med 2001, 101: 82–5 Drossou-Agakidou V, Andreou A, Soubassi-Griva V, Pandoura-
ki M. Cerebrocostomandibular syndrome in four sibs, two pairs of twins. J Med Genet 1991; 28: 704–7
James PA, Aftimos S. Familial cerebro-costo-mandibular syn- drome: a case with unusual prenatal findings and review.
Clin Dysmorphol 2003; 12: 63–8
Leroy JG, Devos EA,Vanden Bulcke LJ, Robbe NS. Cerebro-cos- to-mandibular syndrome with autosomal dominant inher- itance. J Pediatr 1981; 99: 441–3
Miller KE, Allen RP, Davis WS. Rib gap defects with microg- nathia. AJR Am J Roentgenol 1972; 114: 253–6
Plotz FB, van Essen AJ, Bosschaart AN, Bos AP. Cerebro-costo- mandibular syndrome. Am J Med Genet 1996; 62: 286–92 Silverman FN, Strefling AM, Stevenson DK, Lazarus J. Cerebro-
costo-mandibular syndrome. J Pediatr 1980; 97: 406–16 Cerebro-costo-mandibular Syndrome
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Fig. 15.1. Patient 1, newborn. Note severe micrognathia with receding chin. Skull is large relative to facial bones. Anomalies of neural arches of C3 through C5, and an omovertebral bone projecting over left clavicle and scapula can also be observed.
(Reprinted, with permission, from Beluffi et al. 2001)
Fig. 15.2. Patient 1, newborn. Note small thorax, with gaps between posteriorly ossified ribs and anteriorly cartilaginous ribs. Note also anomalous rib insertion to vertebrae. (Reprint- ed, with permission, from Beluffi et al. 2001)
