CHARGE综合征中的肢体异常。
Limb anomalies in the CHARGE association.
作者信息
Meinecke P, Polke A, Schmiegelow P
机构信息
Altonaer Kinderkrankenhaus, Hamburg, West Germany.
出版信息
J Med Genet. 1989 Mar;26(3):202-3. doi: 10.1136/jmg.26.3.202.
Abstract
We report a male infant with iris coloboma, choanal atresia, postnatal retardation of growth and psychomotor development, genital anomaly, ear anomaly, and anal atresia. In addition, there was cutaneous syndactyly and nail hypoplasia of the second and third fingers on the right and hypoplasia of the left second finger nail. Comparable observations have rarely been reported and possibly represent genetic heterogeneity.
摘要
我们报告了一名患有虹膜缺损、后鼻孔闭锁、出生后生长发育迟缓及精神运动发育迟缓、生殖器异常、耳部异常和肛门闭锁的男婴。此外，该患儿还存在皮肤并指畸形以及右手第二和第三指指甲发育不全和左手第二指指甲发育不全。类似的观察结果鲜有报道，可能代表了基因异质性。
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本文引用的文献
1
2
Congenital anomalies in patients with choanal atresia: CHARGE-association.
Eur J Pediatr. 1984 Sep;142(4):271-5. doi: 10.1007/BF00540250.
3
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.缺损、先天性心脏病和后鼻孔闭锁合并多种异常：CHARGE综合征。
J Pediatr. 1981 Aug;99(2):223-7. doi: 10.1016/s0022-3476(81)80454-4.
4
Pathologic features of the CHARGE association: support for involvement of the neural crest.CHARGE综合征的病理特征：支持神经嵴受累的证据
Teratology. 1985 Jun;31(3):331-6. doi: 10.1002/tera.1420310303.
5
A reappraisal of the CHARGE association.对CHARGE综合征的重新评估。
J Med Genet. 1988 Mar;25(3):147-56. doi: 10.1136/jmg.25.3.147.
6
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