Frontofacionasal dysplasia: another observation

  • RM Shawky
  • DI Sadik

Abstract



Frontofacionasal dysplasia (FFND) is a rare group of disorders, characterized by ocular hypertelorism and frontonasal process anomalies in which clinical and etiological heterogeneity have been recognized since the first review by Gollop 1981.1 Frontofacionasal dysplasia is inherited as an autosomal recessive genetic trait. We report on a 10 month old male whose parents are non consanguineous. The patient has severe craniofacial anomalies characterized by: hypertelorism, unilateral (Right sided) malformed eye, lagophthalmos, irregular Sshaped palpebral fissures, deformed nostrils, hypoplastic nasal wing, cleft lip, cleft palate and meningeocele. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia and in our case is associated with facial heamangioma. To our knowledge, facial heamangioma in association with FFND have not been described before

Keywords: Hypertelorism, facial hemangioma, frontofacionasal dysplasia.

Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 225-228
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eISSN: 1110-8630