Aorta ; Aorta, Thoracic ; Aortic Coarctation ; complications ; Craniofacial Dysostosis ; complications ; Heart Defects, Congenital ; complications ; Humans

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis.
Acrocephalosyndactylia ; Antley-Bixler Syndrome Phenotype ; Cranial Sutures ; Craniofacial Dysostosis ; Craniosynostoses* ; Diagnosis ; Genetic Counseling ; Humans ; Skull ; Sutures ; Synostosis ; Wills

OBJECTIVETo investigate the diagnosis and treatment of hypotelorism.

METHODSFrom Jan. 2000 to Jan. 2014, 6 cases with hypotelorism were retrospectively studied. Among them, 3 cases had craniosynostosis, 2 had holoprosencephaly, and 1 had cleft lip. All the cases were diagnosed and treated by bone graft or spring distraction to correct the hypotelorism.

RESULTS2 cases were treated by none graft and 4 cases were treated by external spring distraction. All the patients completed the treatment successfully with obvious improvement in appearance. No complication happened. 4 cases were followed up for 2 years with an average fronto-orbital axis angle as (50 ± 8) °.

CONCLUSIONSHypotelorism can be successfully corrected by bone graft as fronto-orbital bridge or spring distraction.

Bone Transplantation ; Cleft Lip ; Craniofacial Dysostosis ; diagnosis ; surgery ; Craniosynostoses ; complications ; Humans ; Osteogenesis, Distraction ; Retrospective Studies ; Treatment Outcome

OBJECTIVETo detect potential mutations of fibroblast growth factor receptor 2 gene (FGFR2) in two Chinese families with Crouzon syndrome.

METHODSGenomic DNA was extracted from peripheral blood leukocytes of 20 members from two affected families. All of the 18 exons of the FGFR2 gene were amplified with polymerase chain reaction and sequenced after purification.

RESULTSA missense mutation c.868T>C (p.W290R) in exon 8 of the FGFR2 gene was found solely in 2 affected members from family 1. Another missense mutation c.833G>T (p.C278F) in exon 8 was found solely in 5 affected members of family 2.

CONCLUSIONThe missense mutations of the FGFR2 gene are responsible for the Crouzon syndrome in the two families. The c.868T>C missense mutation is reported for the first time in Chinese population.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Case-Control Studies ; Child ; China ; Craniofacial Dysostosis ; genetics ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Receptor, Fibroblast Growth Factor, Type 2 ; genetics ; Young Adult

OBJECTIVETo investigate the application of three-dimensional CT(3D-CT) in the treatment of oblique facial clefts with mandibular outer cortex, including the surgical design and results assessment.

METHODSFrom Jan. 2003 to Dec. 2013, 22 cases with oblique facial cleft, who underwent mandibular outer cortex onlay bone graft were retrospectively studied. 3D images from CT data were reconstructed before operation for design. Then the mandibular outer cortex onlay bone transplant was performed to reconstruct the bone defect and cleft. 3D CT was performed 5-10 days postoperatively and 6- 12 months postoperatively to assess the facial symmetry.

RESULTSAccording to the results of CT measurement, the average volume of the orbital bone defects on the affected side decreased by(64. 6 ± 14. 4)% 5 to 10 days after operation. The average volume of the maxillary and zygomatic bone defects on the affected side decreased by(71.4 ± 15.7)% after surgery. After 6 to 12 months,the average recovery of the mandibular donor site was (57. 9 ± 13. 9)% of the removed mandibular outer cortex. The average absorption of grafted bones was(24.7 ± 25.6 )%. The average height difference between the centre of pupils on both sides before surgery was(3.76 ± 1.27) mm,which decreased to( 1. 15 ± 1.00) mm 5 to 10 days after surgery(P =0. 000) , and( 1.35 ± 1. 13) mm 6 to 12 months after surgery(P = 0. 003). The relapse may be caused by the absorption of the grafted bones.

CONCLUSIONS3D-CT can be used for preoperative design and postoperative assessment in the treatment of oblique facial cleft with mandibular outer cortex.

Bone Transplantation ; Cleft Palate ; surgery ; Craniofacial Dysostosis ; surgery ; Eye Abnormalities ; surgery ; Facial Bones ; abnormalities ; Humans ; Imaging, Three-Dimensional ; Mandible ; transplantation ; Maxillofacial Abnormalities ; surgery ; Retrospective Studies ; Tomography, X-Ray Computed ; methods ; Transplant Donor Site

Body Height ; Child ; Craniofacial Dysostosis ; diagnosis ; Female ; Growth Disorders ; etiology ; Humans

Craniofacial Dysostosis ; Humans ; Receptors, Fibroblast Growth Factor

The Freeman-Sheldon syndrome (FSS) is a rare congenital syndrome, characterized with myopathy and dysplasia. The musculoskeletal and soft-tissue manifestations often require orthopedic and plastic surgery. We reported a case of 8-year-old girl with FSS operated on for scoliosis.
Anesthetics ; therapeutic use ; Child ; Craniofacial Dysostosis ; diagnosis ; surgery ; Female ; Humans ; Scoliosis ; surgery

PURPOSE: Craniosynostosis of three or more cranial sutures was not common. "Mercedes Benz pattern," named by Moore1 was a rare form of craniosynostosis and had an atypical pattern of premature closure of cranial suture. It was not reported in Republic of Korea. We report this case with literature review. METHODS: A 13-months-old male patient visited our clinic due to exophthalmos. He showed normal developmental course. Other neurological tests were normal but he was Crouzon syndrome patient. CT scans showed bilateral lambdoid and posterior sagittal sutures were fused and the length of the skull was extended. Cranioplasty with pi craniotomy & Barrel-Stave osteotomy and recombination of the bone flap was performed. RESULTS: The patient was discharged after post operative 10 days without any complications. In follow up visit after 2.7 years, he was in good state without recurrence and functional abnormality of skull. CONCLUSION: This was the first case of Mercedes Benz pattern craniosynostosis with Crouzon syndrome in Korea. This type of craniosynostosis has to be considered differently from single type of craniosynostosis or typical syndromic craniosynostosis clinically and surgically.
Cranial Sutures ; Craniofacial Dysostosis ; Craniosynostoses ; Craniotomy ; Exophthalmos ; Follow-Up Studies ; Humans ; Korea ; Male ; Osteotomy ; Recombination, Genetic ; Recurrence ; Republic of Korea ; Skull ; Sutures

OBJECTIVETo discuss the segmental monobloc osteotomy and bi-directional distraction for the treatment of Crouzon syndrome in an infant.

METHODSA 9-month-old female infant underwent monobloc osteotomy through combined intra- and extra-cranial way. The facial skull was divided into frontal, orbital and maxillary segments. The external distractor was used to move the frontal segment, orbital segment and midface forward. The internal distractor was used to move the maxilla downward. The consolidation lasted for 3 months after distraction.

RESULTSThe osteotomy and distraction were successfully completed. The distraction distance reached 18 mm, showing by distractor. The real distraction distance of facial bone was 12 mm, documented by 3-D image. The skull deformity and severe depression of midface improved a lot. The exophthalmos and underbite were corrected. The obstructive sleep apnea also improved markedly. However, the downward movement of maxilla was limited.

CONCLUSIONSMonobloc osteotomy with external distractor, as well as maxillary distraction, could be used for Crouzon syndrome in infant. It is safe and effective method which can be performed in an early age for Crouzon syndrome with obstructive sleep apnea.

Craniofacial Dysostosis ; surgery ; Female ; Humans ; Infant ; Osteogenesis, Distraction ; methods ; Osteotomy ; methods