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两例同胞出现矢状缝早闭、先天性心脏病、智力缺陷及各种畸形——一种“新”综合征？

Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs--a "new" syndrome?

作者信息

Pfeiffer R A, Singer H, Zschiesche S

出版信息

Eur J Pediatr. 1987 Jan;146(1):75-8. doi: 10.1007/BF00647293.

DOI:10.1007/BF00647293
PMID:3582410
Abstract

This is a report on two mentally retarded sibs with similar anomalies (sagittal craniosynostosis, complex cardiovascular malformations, mandibular ankylosis) and various dysmorphic features. They could represent a "new" probably monogenic syndrome.

摘要

这是一份关于两名患有相似异常（矢状缝早闭、复杂心血管畸形、下颌关节强直）及各种畸形特征的智障同胞的报告。他们可能代表一种“新的”、可能为单基因的综合征。

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引用本文的文献

1
An unusual, possibly "new" MA/MR syndrome with sagittal craniosynostosis.
Eur J Pediatr. 1987 Jan;146(1):74-5. doi: 10.1007/BF00647292.

本文引用的文献

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HEART DISEASE IN THE LAURENCE-MOON-BIEDL-BARDET SYNDROME: A REVIEW AND A REPORT OF 3 BROTHERS.
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The premature synostosis of the cranial sutures.颅缝过早闭合。
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Craniosynostosis: a review of 519 surgical patients.颅缝早闭：519例手术患者的回顾
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Familial polysyndactyly and craniofacial anomalies.
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Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s).
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Sagittal craniostenosis: fetal head constraint as one possible cause.
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Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating.颅缝早闭及伴有颅缝早闭的综合征：发病率、遗传学、外显率、变异性及新综合征更新
Birth Defects Orig Artic Ser. 1979;15(5B):13-63.