Relationship between absent or hypoplastic fetal nasal bone and chromosome abnormalities: analysis of 187 cases / 中华围产医学杂志

Objective To investigate the relationship between absent or hypoplastic fetal nasal bone and chromosome abnormalities.Methods From January 2010 to April 2014,187 fetuses were found to have absent or hypoplastic nasal bone by prenatal ultrasound scanning in Guangzhou Maternal and Children's Hospital.All the pregnant women should undergo interventional prenatal diagnosis for fetal chromosome abnormalities,and should be followed up for three months after the expected delivery date.The correlation between absent or hypoplastic fetal nasal bone and chromosome abnormalities,and the effects of complicating structural defects were analyzed by descriptive analysis and the Chi-square test.Results Of the 187 pregnant women,126 underwent interventional prenatal diagnostic tests,and fetal chromosome abnormalities were detected in 36 cases (28.6％),including 26 cases (20.6％) of trisomy 21,6 cases (4.8％) of trisomy 18,three cases (2.4％) of trisomy 13 and one sex chromosome chimerism.In the 126 cases received prenatal diagnosis,the incidence of chromosome abnormalities in fetuses without other structural defects was significantly lower than that with structural defects [12.7％ (8/63) vs 44.4％ (28/63),x2=15.556,P=0.000].Among 63 cases without other structural defects,seven fetuses were confirmed to have chromosome abnormalities in 14 women with high risk by Down syndrome screening,no chromosome abnormalities were found in 39 pregnant women with low risk by Down syndrome screening,and one sex chromosome chimerism was found in the other ten women who did not undergo Down syndrome screening.Absent or hypoplastic nasal bone detected in the first trimester resulted in a higher risk of chromosome abnormalities than that detected in the second and the third trimester [25.5％ (28/110) vs 10.4％ (8/77),x2=6.613,P=0.007].Conclusions When a fetus is found to have absent or hypoplastic nasal bone,it is necessary to perform Down syndrome screening and a detailed morphology scan.Women shown to have fetuses with absent or hypoplastic nasal bone with other structural defects or high risk by Down syndrome screening should undergo prenatal diagnostic tests to exclude fetal chromosome abnormalities.

Magnetic resonance imaging and radiological findings of familial sacral agenesis: a report of 6 cases / 中华全科医师杂志

The clinical characteristics and radiological data of 6 cases of sacral agenesis in one single family were analyzed and a literature review was performed.On magnetic resonance imaging (MRI),all of them presented with a partial absence of sacral vertebra,including associations with lumbar abnormalities (n =2) and sacral agenesis (n =2).One case presented with fourth/fifth lumbar vertebra bone fusion and fifth lumbar/first sacral vertebra bone fusion.On radiology,4 cases had concurrent scoliosis.None of them had tethered cord,diastematomyelia or meningocele.The understanding of sacral agenesis may be improved after reviewing and summarizing clinical features and radiological findings.

Pyknodysostosis: report of a rare case with review of literature

Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.

Roles of Foxc2 in the development of axial skeleton / 中国病理生理杂志

AIM: To investigate the roles of forkhead box c2(Foxc2) in axial skeloton. METHODS: Mice lacking Foxc2 locus were produced by targeted mutation and the developmental anomalies in axial skeleton were analyzed. RESULTS: Foxc2 protein increased markedly in Myoblasts C2C12 after treating with BMP-2, and alkaline phosphatase activity and production of osteocalcin in Myoblasts C2C12 were significantly higher than that in cell lines transfecting antisense Foxc2 sequence. Expressed median cleft palatine, dysplasia of auditory ossicles and vertebral and anteroposterior facial dysplasia were found in all 15 homozygous mouse neonates with targeted mutation of Foxc2. CONCLUSION: These results suggest that Foxc2 has indispensable roles during skeletogenesis in mesoderm and cells derived from the neural crest. [

Surgical Treatment of the Craniofacial Dysostoses-Crouzon's Disease

Craniofacial dysostoses(Crouzon's disease) are characterized by cranial and facial deformities but the relationship between the craniosynostosis and facial deformities has not been clearly established. However, we believe that certain facial hypoplasias are comparable in nature with craniostenosis. Our objective in treatment of the Crouzon's disease is to achieve a postero-anterior movement of the whole facial mass, with the double aim of establishing normal dental occlusion and of increasing orbital capacity. The method we describe uses Tessier's basic procedures for surgical correction of the Crouzon's diseases patient who was 16 year-old boy. It would appear that the best treatment of these requires a radical and total osteostomy of the middle third of the face, to permit complete repositioning of the involved segment. These total osteotomies frequently include the creation of a line of separation between the anterior cranial base above and the facial bone below and also between the pterygoid processes behind and the maxilla anteriorly. Thus one is detaching the face from the cranial base. The authors described the surgical management of the Crouzon's disease and discussed the warning points of intraoperative technique in correction of the craniofacial dysostosis.

Clinical Experience for the Surgery in the Craniofacial Dysostosis: Reports of Nine Operative Cases

The craniofacial dysostoses are due to synostosis of the basal skull sutures in the anterior cranial fossa. Patients with these abnormalities potentially have normal brains that are distorted by the misshapen skull ; shallow anterior fossa and reduction of the orbital volume, exophthalmos, and hypoplasia of the maxilla. The authors describe the operative repair and results of 9 cases of craniosynostosis. The craniofacial dysmorphic states are presumably caused by premature closure of basal skull sutures in combination with the coronary suture. In an effort to arrest and correct both the cranial and facial deformities as well as obviate the need for further radical surgery, the authors have treated 9 children with Crouzon's disease with linear suture craniectomy along the base of the skull, forehead advancement and unilateral canthal advancement techniques. A linear craniectomy along the synostotic sutures does not affect the synostotic process at the base of the skull. The advance of supraorbital margin and creating an artificial suture at the base of skull allowed for porper correction those craniofacial deformities. Following those procedure, deformity has regressed and ultimate cosmatic improvement has been obtained in 4 cases of grade III and 3 cases of the grade II and 2 cases of grade I among the 9 patients. Early neurosurgical intervention using the procedure of the forehead advancement and lateral supraorbital ridge advancement combined with linear craniectomy along the skull base suture, yields excellent results in the majority of these children.