Srpski arhiv za celokupno lekarstvo 2016 Volume 144, Issue 7-8, Pages: 431-435
https://doi.org/10.2298/SARH1608431M
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A case of severe type of cerebro-costo-mandibular syndrome
Matić Aleksandra (Institute for Child and Youth Health Care of Vojvodina, Novi Sad + Medical Faculty, Novi Sad)
Velisavljev-Filipović Gordana (Institute for Child and Youth Health Care of Vojvodina, Novi Sad + Medical Faculty, Novi Sad)
Lovrenski Jovan (Institute for Child and Youth Health Care of Vojvodina, Novi Sad + Medical Faculty, Novi Sad)
Gajdobranski Đorđe (Institute for Child and Youth Health Care of Vojvodina, Novi Sad + Medical Faculty, Novi Sad)
Introduction. Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder,
with only 75 cases described in the literature to date. CCMS is characterized
by association of micrognathia and specific multiple rib defects. It is
accompanied by mental deficiency in considerable number of cases. Sometimes,
there are associated anomalies and problems, such as spine deformities,
brain, heart, kidney or ear anomalies, feeding difficulties, delayed
psychomotor development, and growth impairment. Depending on severity of
deformities and consecutive respiratory insufficiency, in about 35-50% of
CCMS cases, death occurs during the first year of life. These cases are
referred to as severe types of CCMS. Case Outline. In this paper we present a
female infant with severe type of CCMS. Diagnosis was established in the
first day of life, based on micrognathia and findings of posterior rib-gap
defects on the chest X-ray, accompanied by dyspnea. Progressive severe
respiratory insufficiency caused by chest and air-way deformities and
exacerbated by episodes of pneumonia, led to respiratory failure and death at
the age of 7.5 months. Conclusion. CCMS should be considered in every infant
with micrognathia and rib-gap defects on chest X-ray.
Keywords: cerebro-costo-mandibular syndrome, rib-gap defects with micrognathia, micrognathism, respiratory in sufficiency, ribs, congenital abnormalities