Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)

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Özdemir Karataş M., Özdemir Özenen D., Hart T. C., Hart P. S.

CASE REPORTS IN DENTISTRY, ss.1-5, 2014 (ESCI)

  • Yayın Türü: Makale / Vaka Takdimi
  • Basım Tarihi: 2014
  • Dergi Adı: CASE REPORTS IN DENTISTRY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Directory of Open Access Journals
  • Sayfa Sayıları: ss.1-5
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background.Theorofaciodigitalsyndromes(OFDS)areaheterogeneousgroupofsyndromesthataffecttheface,oralcavity,andthe digits. OFDS type IV (OMIM%258860)israre and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia,hypoplasticmandible,andlow-setears.Oralsymptomsmayincludecleftlip,cleftorhighlyarchedpalate,bifiduvula, cleft or hypoplastic maxillary and mandibular alveolar ridge, oral frenula, lingual hamartoma, and absent or hypoplastic epiglottis. Dental anomalies are common and generally include disturbances in the number of teeth. Case Report. This report presents a six-year-old girl, referred with the chief complaint of missing teeth. She was diagnosed as having OFDS type IV based on clinical f indings. Her parents reported three deceased children and two fetuses that had the same phenotype. She was the seventh child of consanguineous parents who were first cousins. Conclusion. This is a very rare syndrome. Many reported OFDS type IV cases have consanguineous parents, consistent with an autosomal recessive trait. Manifestation of cleft palate in the healthy sibling may be mild expression of the disorder or an unrelated isolated cleft.