Orofaciodigital Syndrome Xi

Clinical Features

Gabrielli et al. (1994) reported a boy with an oral-facial-digital syndrome associated with skeletal anomalies and severe psychomotor delay. A CT scan of the skull showed vomer duplication, cleft ethmoid bone, incomplete crista galli apophysis with small ethmoidal plate dehiscence, and cleft palate. He also had hypoplastic and slightly abnormal odontoid process, fusion of C2 and C3 posterior arches, partial synostosis between the atlas and the base of the occiput, and cleft of cervical and dorsal vertebral bodies. Gabrielli et al. (1994) suggested that this was a novel OFD syndrome associated with vertebral and craniofacial anomalies.

Ferrero et al. (2002) described a girl with an OFD syndrome associated with a nasopharyngeal hairy polyp, partial synostosis between the atlas and the base of the occipital bone, multiple proximal-cervical and distal-thoracic vertebral clefts, kyphoscoliosis, empty sella turcica, and mental retardation. They proposed that this patient represents a second case of OFD with skeletal anomalies with a milder clinical expression.

Obregon and Barreiro (2003) described a girl with unusual facies, atrial septal defect, postaxial polydactyly on the left hand and feet, global developmental delay, rocking, self-destructive behavior, bilateral severe sensorineural hearing loss, and fusion of C2 and C3 posterior arches in the spine. Obregon and Barreiro (2003) suggested that the patient had Gabrielli syndrome. They noted that she did not have cleft palate and oral frenula, but they considered facial anomalies, cardiac defects, skeletal abnormalities, mental retardation, and hearing loss to be the cardinal manifestations of the syndrome.