CEREBRO-COSTO-MANDIBULAR
SYNDROME (CCMS)
|
Smith-Theiler-Schachenmann syndrome; rib-gap
syndrome; rib gap defect-micrognathia syndrome
CCMS is a rare condition characterized by defective costal development,
cerebral maldevelopment and features of Pierre-Robin syndrome. The majority of
these infants die shortly after birth from respiratory insufficiency and flail
chest. No chromosomal abnormality has yet been detected but it is thought to be
autosomal dominant.
Mental retardation associated mainly with costovertebral malformations and
orofacial defects. Mental defect may not be inherent but rather a consequence
of neonatal respiratory distress.
It is thought that there is retarded maturation of dorsal ribs, which causes
aplasia and rib-gaps, as these areas fail to ossify. These rib deformities
contribute to the chest deformity that results in the respiratory failure.
- Increased nuchal translucency
in the first trimester.
- Severe micrognathia.
- Palatal defects include short
hard palate, absent soft palate, cleft palate, and absent uvula in
association with glossoptosis.
- Posterior rib gap defects
(the number of involved ribs varies from a few to almost all). Bilateral
rib gaps between the costovertebral junction area and he lateral arc, most
frequently occurring between the third and seventh thoracic segments occur
in most cases. Flail chest is the usual consequence. Hypoplasia of the
sternum and clavicles may be associated
- Rib gaps may also be seen in
and.
- Rib involvement is usually
bilateral but not necessarily symmetrical
- Rudimentary or absent ribs
have been described.
- Cerebral manifestations (50%)
- non-specific but include microcephaly.
- Abnormalities of the tracheal
cartilage, skeleton, kidneys and heart have been described.
- Spine - fusion
of the vertebrae to each other, scoliosis, and hemivertebrae may be
associated.
- Elbow
hypoplasia and other limb abnormalities may occur.
- Differential diagnosis of rib
gaps:
- Jarcho-Levin syndrome.
- Goldenhar syndrome.
- Oculovertebral
syndrome.
- Ischiospinal
dysostosis with rib gaps and nephroblastomatosis - Rib gaps, vertebral ossification
defects, hypoplastic ischial bones and large kidneys were present in a
newborn. A renal biopsy showed nephroblastomatosis . The observation
links two recently described conditions - 'ischiospinal dysostosis' and
'a new syndrome comprising vertebral anomalies and multicystic kidneys' -
and shows that nephroblastomatosis may be a manifestation of ischiospinal
dysostosis. Ischiospinal dysostosis with nephroblastomatosis is one of a
group of disorders characterized by developmental defects of the axial
skeleton. It must be added to the conditions predisposing to Wilms tumor
formation.
- Plotz FB, van Essen AJ, Bosschaart
AN et.al. Cerebro-costo-mandibular syndrome. Am J Med Genet
1996;62:286-292.
- Smith DWK, Theyler K,
Schachemann G. Rib-gap defects with micrognathia, malformed tracheal
cartilages and redundant skin: a new pattern of defective development. J
Pediatr 1966;69:799-803.
- Drossou-Agakidou V, Andreou
A, Soubassi-Griva V et.al. Cerebro-costo-mandibular syndrome in four
siblings, two pairs of twins. J Med Genet 1991;28:704-707.
- Ibba RM, Corda A, Zoppi MA
et.al. Cerebro-costo-mandibular syndrome: early sonographic prenatal
diagnosis. Ultrasound Obstet Gynecol 1997;10:142-144.
- Spranger J; Self S; Clarkson KB; Pai GS. Ischiospinal
dysostosis with rib gaps and nephroblastomatosis. Clin Dysmorphol 2001 Jan;10(1):19-23