Advance in diagnosis and treatment of craniofrontonasal syndrome / 中华整形外科杂志

Craniofrontonasal syndrome/dysplasia(CFNS/CFSD) is a rare X-linked malformation syndrome caused by EFNB1 gene mutations. It is characterized by unilateral or bilateral coronal craniosynostosis, hypertelorism, frontal bossing, broad or bifid nose, grooved nails, agennetic corpus callosum. Female are more commonly and more severely affected than males. Given the classic manifestation, specific hereditary, and complicated treatment, the diagnosis and treatment of CFNS is always a challenge. However, there is only a few studies related to CFNS, and consensus regarding its treatment has not been reached. Thereby, we summarized pertinent literatures and made a thorough review on the diagnosis and treatment of CFNS.

Surgical correction of grade III hypertelorism

Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital. Surgical techniques used to correct the deformity were box osteotomy and medial wall osteotomy with or without calvarial and rib grafts. A few of our cases were reoperations with specific challenges.

Orbital widening syndrome: etiology and therapeutic approaches / 中华医学美学美容杂志

Objective To evaluate the etiology,therapeutic approaches and prognosis of orbital hypertelorism.Methods Clinical data of 23 cases were summarized with review ot the literature.Results All operations provided satisfactory cosmetic effects.All the patients were followed up for 6 months to 5 years,and no recurrence were observed.Conclusions A good cosmetic effect can be obtained by operation in orbital hypertelorism.The preschool period the best opportunity,and stable effects could be gotten and the psychological development of children has not been influenced.The intracranial and extracranial joint pathway orbit box osteotomy still has drawbacks and requires to be improved.The etiology of gene and molecular aspects need to be explored.