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“C”型三角头畸形综合征:临床变异性及手术治疗的可能性

"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment.

作者信息

Lalatta F, Clerici Bagozzi D, Salmoiraghi M G, Tagliabue P, Tischer C, Zollino M, Di Rocco C, Neri G, Opitz J M

机构信息

Seconda Clinica Pediatrica, Università di Milano, Italy.

出版信息

Am J Med Genet. 1990 Dec;37(4):451-6. doi: 10.1002/ajmg.1320370404.

Abstract

We report on 3 new cases of C trigonocephaly syndrome. In addition to the findings characteristic of this condition, one of the patients also had a large omphalocele. This patient was referred from a suburban hospital with a diagnosis of Down syndrome, stressing the fact that C syndrome is still under-recognized and underdiagnosed. Another patient was diagnosed at birth and immediately submitted to craniosynostectomy. A second operation was performed 7 months later resulting in normal brain growth and close to normal psychomotor development at 3 years, in contrast to the third patient, who was not treated surgically and was severely retarded at 4 years.

摘要

我们报告了3例新的C型三角头畸形综合征病例。除了该病症的典型表现外,其中一名患者还患有巨大脐膨出。该患者从一家郊区医院转诊而来,最初被诊断为唐氏综合征,这凸显了C综合征仍未得到充分认识和诊断的事实。另一名患者在出生时被诊断出,并立即接受了颅骨缝切除术。7个月后进行了第二次手术,该患者在3岁时大脑生长正常,精神运动发育接近正常,相比之下,第三名患者未接受手术治疗,4岁时严重发育迟缓。

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