We report the first case of a neonate with concurrent Chiari II malformation and achondroplasia. Although rare, both these conditions contribute to several deleterious anatomical changes at the cervicomedullary juncti...We report the first case of a neonate with concurrent Chiari II malformation and achondroplasia. Although rare, both these conditions contribute to several deleterious anatomical changes at the cervicomedullary junction and thus predispose to acute hydrocephalus. Although our patient was initially asymptomatic, hydrocephalus ensued several weeks after birth and required cerebral spinal fluid diversion. We discuss the potential links between the two conditions, the pathophysiology, and the important clinical implications for the management of the increased risk of hydrocephalus.展开更多
Achondroplasia （ACH） is the most common form of skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, relative macrocephaly and other skeletal anomalies resulting from a defect in th...Achondroplasia （ACH） is the most common form of skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, relative macrocephaly and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. The combined frequency of the disease has been estimated to be 1 in 15 000 live births.1 ACH is inherited in autosomal dominant fashion with a complete penetrance, more than 80% of affected individuals have de novo mutations associated with increased paternal age.展开更多
Background:Children with achondrOplasia often have breathing problems,especially during sleep.The most important treatments are adenotonsillectomy(for treating upper obstruction)and/or neurosurgery(for resolving cervi...Background:Children with achondrOplasia often have breathing problems,especially during sleep.The most important treatments are adenotonsillectomy(for treating upper obstruction)and/or neurosurgery(for resolving cervicomedullar junction stenosis).Data SOlirces:We reviewed the seientitle literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep.展开更多
文摘We report the first case of a neonate with concurrent Chiari II malformation and achondroplasia. Although rare, both these conditions contribute to several deleterious anatomical changes at the cervicomedullary junction and thus predispose to acute hydrocephalus. Although our patient was initially asymptomatic, hydrocephalus ensued several weeks after birth and required cerebral spinal fluid diversion. We discuss the potential links between the two conditions, the pathophysiology, and the important clinical implications for the management of the increased risk of hydrocephalus.
基金the funds of the National HighTechnology Research and Development Program of China (863 Program, No. 2002BA711A07)the 10th Five Years Key Programs for Science and Technology Development of China (No. 2004BA720A02) the National Natural Science Foundation of China (No. 30470982)
文摘Achondroplasia （ACH） is the most common form of skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, relative macrocephaly and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. The combined frequency of the disease has been estimated to be 1 in 15 000 live births.1 ACH is inherited in autosomal dominant fashion with a complete penetrance, more than 80% of affected individuals have de novo mutations associated with increased paternal age.
文摘Background:Children with achondrOplasia often have breathing problems,especially during sleep.The most important treatments are adenotonsillectomy(for treating upper obstruction)and/or neurosurgery(for resolving cervicomedullar junction stenosis).Data SOlirces:We reviewed the seientitle literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep.
