title: [Robinow's syndrome associated with deafness].
abstract: BACKGROUND
  Robinow mesomelic dysplasia is an autosomal dominant or recessive condition that results is a flat facial profile, mesomelic shortening and frequent genital hypoplasia. This report describes a case with bilateral deafness.
  
  
  METHODS
  A boy was born at term to consanguineous parents who have no morphological abnormalities. The child's older brother and sister are normal. The patient was admitted at the age of 5 months because of abnormal features: enlarged skull with prominent forehead, flat facial profile, hypertelorism, small chin, shortening in the mesomelic segments of the limbs and genital hypoplasia without cryptorchidism. X-rays confirmed the mesomelic shortening and showed radial head dislocation and vertebral abnormalities. These abnormalities were more evident at the age of 2 1/2 years, when a bilateral sensorineural hearing loss was detected.
  
  
  CONCLUSIONS
  This case of Robinow has all the characteristic findings plus deafness. The parental consanguinity suggests that its inheritance is autosomal recessive.
authors.affiliation: Service de Pédiatrie, Hôpital La Rabta, Tunis, Tunisie.
authors.forename: A
authors.initials: A
authors.lastname: Samoud
authors.forename: K
authors.initials: K
authors.lastname: Menif
authors.forename: M
authors.initials: M
authors.lastname: Boulaares
authors.forename: M F
authors.initials: MF
authors.lastname: Ben Dridi
mesh_terms: D000015:Abnormalities, Multiple; D003638:Deafness / Q000151:congenital*; D004392:Dwarfism / Q000151:congenital*; D005147:Facial Bones / Q000002:abnormalities*; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities; D013577:Syndrome
vernacular_title: Syndrome de Robinow associé à une surdité.