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瑙莫夫短肋多指综合征合并莫尔口腔面指综合征。

Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome.

作者信息

Young L W, Wilhelm L L, Zuppan C W, Clark R

机构信息

Division of Pediatric Radiology, Loma Linda University Medical Center, California, USA.

出版信息

Pediatr Radiol. 2001 Jan;31(1):31-5. doi: 10.1007/s002470000361.

Abstract

A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II).

摘要

一名死产男婴有严重全身性侏儒症的表现,四肢短小、肋骨短且多指畸形,符合瑙莫夫(III型)短肋多指综合征。他还伴有其他先天性异常,包括腭裂、上唇切迹、带有舌下附属组织的小舌。这些口腔和咽部异常符合莫尔(II型)口腔面指综合征。我们认为该死产婴儿代表了瑙莫夫短肋多指综合征(SRPS-III型)和莫尔口腔面指综合征(OFDS-II型)的复合情况。

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