Achondroplasia is a genetic condition characterized by skeletal dysplasia that results in characteristic craniofacial and spinal abnormalities.It is the most common form of short-limbed skeletal dysplasia.A morbidly o...Achondroplasia is a genetic condition characterized by skeletal dysplasia that results in characteristic craniofacial and spinal abnormalities.It is the most common form of short-limbed skeletal dysplasia.A morbidly obese pregnant patient warrants specific anatomical and physiological considerations,such as a difficult airway with potential hypoxia,full stomach precautions,and a reduced functional residual capacity.Achondroplasia increases the risks of maternal and fetal complications.Although neuraxial techniques are generally preferred for cesarean sections,there is no consensus among patients with achondroplasia.We aimed to discuss the anesthetic challenges in an achondroplastic patient and report our regional anesthesia approach for an elective cesarean section.展开更多
Atelosteogenesis type II (AO2) and diastrophic dysplasia (DTD) are two recessively inherited, severe skeletal dysplasias caused by mutations in the SLC26A2 gene. AO2 is an invariably lethal condition, while DTD patien...Atelosteogenesis type II (AO2) and diastrophic dysplasia (DTD) are two recessively inherited, severe skeletal dysplasias caused by mutations in the SLC26A2 gene. AO2 is an invariably lethal condition, while DTD patients may reach adult life, although both diseases have overlapping diagnostic features. Here we report a patient with an intermediate phenotype between AO2 and DTD and present the successful application of preimplantation genetic diagnosis (PGD) in this situation. Sequencing of SLC26A2 alleles in the infant identified two compound heterozygous mutations, p.Arg178Ter and p.Arg279Trp, of paternal and maternal origin, respectively. At request from the parents, PGD was developed by haplotype mapping of parental SLC26A2 alleles in eleven five-day embryos. Transference to the mother was attempted twice, finally resulting in pregnancy and delivery of a healthy baby. This exemplifies the utility of PGD for inherited lethal conditions with a significant risk of recurrence, and highlights the importance of accurate diagnosis of skeletal dysplasias with prenatal manifestation.展开更多
Pseudoachondroplasia(PSACH)is a relatively common skeletal dysplasia characterized by disproportionate short stature,joint laxity,early-onset osteoarthrosis,and dysplasia of the spine,epiphysis,and metaphysis.It is kn...Pseudoachondroplasia(PSACH)is a relatively common skeletal dysplasia characterized by disproportionate short stature,joint laxity,early-onset osteoarthrosis,and dysplasia of the spine,epiphysis,and metaphysis.It is known as an autosomal dominant disease which results exclusively from mutations in the gene for Cartilage Oligomeric Matrix Protein(COMP).We have identified a five year old Chinese boy who was diagnosed as pseudoachondroplasia according to clinical manifestations and X-ray symptoms.His mother seems like another effected individual because of the apparent short stature.Genomic DNA was extracted from peripheral blood lymphocytes.DNA sequencing analysis of the COMP gene revealed a heterozygous mutation(c.1219 T>C,p.Cys407Arg)in the patient.His mother was also affected with the same genetic change.Mutations in COMP gene is proved to change the Cartilage Oligomeric Matrix Protein.This missense mutation(c.1219 T>C)has not been reported before and it is not belongs to polymorphism sites.Our results extend the spectrum of mutations in COMP gene leading to pseudoachondroplasia.展开更多
基金supported in part by the University of California Davis Health Department of Anesthesiology and Pain Medicine and an NIH grant(No.UL1 TR000002)from the University of California Davis Health.
文摘Achondroplasia is a genetic condition characterized by skeletal dysplasia that results in characteristic craniofacial and spinal abnormalities.It is the most common form of short-limbed skeletal dysplasia.A morbidly obese pregnant patient warrants specific anatomical and physiological considerations,such as a difficult airway with potential hypoxia,full stomach precautions,and a reduced functional residual capacity.Achondroplasia increases the risks of maternal and fetal complications.Although neuraxial techniques are generally preferred for cesarean sections,there is no consensus among patients with achondroplasia.We aimed to discuss the anesthetic challenges in an achondroplastic patient and report our regional anesthesia approach for an elective cesarean section.
基金The authors would like to thank the subjects reported here and Hospital de Clínicas de Porto Alegre Research Fund 12-0467 for supporting this publication.
文摘Atelosteogenesis type II (AO2) and diastrophic dysplasia (DTD) are two recessively inherited, severe skeletal dysplasias caused by mutations in the SLC26A2 gene. AO2 is an invariably lethal condition, while DTD patients may reach adult life, although both diseases have overlapping diagnostic features. Here we report a patient with an intermediate phenotype between AO2 and DTD and present the successful application of preimplantation genetic diagnosis (PGD) in this situation. Sequencing of SLC26A2 alleles in the infant identified two compound heterozygous mutations, p.Arg178Ter and p.Arg279Trp, of paternal and maternal origin, respectively. At request from the parents, PGD was developed by haplotype mapping of parental SLC26A2 alleles in eleven five-day embryos. Transference to the mother was attempted twice, finally resulting in pregnancy and delivery of a healthy baby. This exemplifies the utility of PGD for inherited lethal conditions with a significant risk of recurrence, and highlights the importance of accurate diagnosis of skeletal dysplasias with prenatal manifestation.
基金We thank the members for the participation.This study was supported by the grants from the Key Program of Chongqing Health and Family Planning Commission(NO.[2013]39:2013-1-029).
文摘Pseudoachondroplasia(PSACH)is a relatively common skeletal dysplasia characterized by disproportionate short stature,joint laxity,early-onset osteoarthrosis,and dysplasia of the spine,epiphysis,and metaphysis.It is known as an autosomal dominant disease which results exclusively from mutations in the gene for Cartilage Oligomeric Matrix Protein(COMP).We have identified a five year old Chinese boy who was diagnosed as pseudoachondroplasia according to clinical manifestations and X-ray symptoms.His mother seems like another effected individual because of the apparent short stature.Genomic DNA was extracted from peripheral blood lymphocytes.DNA sequencing analysis of the COMP gene revealed a heterozygous mutation(c.1219 T>C,p.Cys407Arg)in the patient.His mother was also affected with the same genetic change.Mutations in COMP gene is proved to change the Cartilage Oligomeric Matrix Protein.This missense mutation(c.1219 T>C)has not been reported before and it is not belongs to polymorphism sites.Our results extend the spectrum of mutations in COMP gene leading to pseudoachondroplasia.
