颅锁骨发育不全综合征1例

患儿：女，2岁8个月。以“身高、体质量较同龄儿低，囟门未闭”就诊。患儿系第1胎第1产，足月剖宫产(臀位)，出生体质量3．05kg，否认产伤、窒息。母孕期体健，无放射线及毒物接触史。生后母乳喂养至6个月，后人工喂养。8个月会说“爸、妈”，1岁1个月会走路，现能上楼梯，能与人交往，说话成句，会画画，可自己进食。家长发现患儿生后3个月起生长速度减慢，     

新生儿颅锁骨发育不全一例

患儿男 ,2ｄ。因发现囟门大、颅骨缝宽 2ｄ入院。患儿为足月剖宫产儿 ,生产过程顺利 ,胎盘、脐带、羊水无特殊。生后一般情况良好。母孕 2个月时因患“上呼吸道感染”曾口服“伤风胶囊” ,孕前曾服过避孕药。一级亲属中无类似病例 ,二级亲属均早亡 ,死因不详。体检 :体重 2 90 0ｇ ,身长5 0ｃｍ ,头围 34ｃｍ ,前囟 7ｃｍ× 7ｃｍ ,后囟 4ｃｍ× 4ｃｍ ,前后囟相连 ,骨缝宽 ,额、顶、枕骨均明显小于正常。心肺腹未见异常 ,新生儿神经反射正常。实验室检查 :血尿便常规无异常。Ｘ线片提示 :双侧锁骨细小 ,右侧锁骨外 1/ 3处可见骨体缺损 ;脊…     

新生儿颅锁骨发育不全误诊为先天性佝偻病1例

患儿男，28天，因头围较大，颅骨软门诊以“先天性佝偻病”收入院。其前曾两次来诊，门诊均按佝楼病给予维生素AD、钙剂等治疗效差。患儿系第二胎第二产，足月顺产，出生体重3．5kg。入院查体：体温正常，神志清楚，精神尚好，发育营养中等，头围38cm，颅骨软，前囟3．5×4cm，平坦张力不高。后囟3×2．5cm。颅骨矢状缝，冠状缝均分离，间距0．5cm。两眼距较宽，双眼球无下转现象。心肺、腹均无异常。脊柱四肢无畸形。化验血、尿、大便常规及血钙、磷、AKP均正常。颅脑CT示脑实质及脑液腔系统无异常，诸块颅骨间缝明显增宽，前后囟门增大…     

颅锁骨发育不全1例家系调查

我科收治1例颅锁骨发育不全(CheidocranialDysplasia),就其家系进行调查现报告如下。病史摘要及家系调查先证者IV_1,女,1(4/12)岁,因腹泻入院。第一胎足月剖腹产,出生体重3kg,平     

颅锁骨发育不全一家2例报告

颅锁骨发育不全是一种少见的遗传性疾病,表现为全身骨发育障碍。我们最近发现一家父女2人同患本病,现报告如下。例1 女,8个月。36周早产,剖腹产,出生体重2.35kg。生后即发现有明显漏斗胸。生后40天起     

颅锁骨发育不全五例综合报告

颅锁骨发育不全(Cleidocranial dyspasia)又称骨盆颅锁骨发育不全,或称骨牙发育障碍,为罕见的先天性全身骨发育障碍疾病,尤以膜性骨化不全为主,多属常染色体显性遗传。1767年Martin首     

颅锁骨发育不全一家2例报告

颅锁骨发育不全又名Hulkerantt骨形成不全。本病较少见,现报告母女2例如下。例1 女,2 6/12岁。因前囟未闭而门诊治疗。G_1P_1,足月,剖腹产,体重2.95kg。母乳喂养,1岁断奶,6月长牙,1岁会讲话及走路。体检:营养发育中     

颅骨锁骨发育不全综合征一例

患儿男,因“生后呻吟、发绀、易惊2h”入院.患儿系第2胎第2产,胎龄37周,出生史不详.查体：体温不升,P 125次/min,R 53次/min,体重2200 g,身长47 cm,精神萎靡,面色及口唇发绀,呼吸浅弱欠规则,头围33 cm,颅顶平坦呈短头畸形,囟门和颅缝增宽,前囟饱满,顶骨部无骨感,双肺可闻及少量湿哕音,心腹未见异常,四肢肌张力低,原始反射未引出.家族史：父母系近亲,家族中连续四代均为直系亲属结婚.     

颅锁骨发育不全一家3代4例

例1，女，12a。因双耳听力下降3a就诊。3a前发现耳聋，近半年加重。学习成绩较差。查体：反应迟钝，身高125cm，体重25kg，头围53cm，前囱6．scmX6．scm，矢状缝裂开4cm，前额突出，眼距增宽，鼻梁塌陷，唇厚，舌粗大，乳牙未换，色黄，牙齿排列不齐，下额较大，双肩下垂，能向     

一例颅锁骨发育不良患儿的RUNX 2基因突变研究

目的　报告 1中国人常染色体显性遗传颅锁骨发育不良的临床病例并对其致病基因RUNX 2进行突变鉴定。方法　根据患儿的症状、体征、骨骼系统放射线检查和相关血液生化检查进行临床诊断。提取患儿外周血DNA ,PCR扩增RUNX 2编码氨基酸的 7个外显子片段 ,测序检测突变。结果　患儿 ,女 ,5岁 ,具有前囟大、双锁骨缺失、身材矮小、牙齿异常等典型颅锁骨发育不良临床表现。PCR扩增片段直接测序显示患儿RUNX 2外显子 2内发生R190W (5 6 8C >T)错义突变。该突变通过PCR产物的HaeIII限制酶切分析得到进一步确认。结论　报告一例颅锁骨发育不良病例并发现RUNX 2一复发点突变为其致病的遗传基础。     

Three Different Manifestations of Congenital Muscular Aplasia in a Family

ABSTRACT. This report concerns three different manifestations of congenital muscular aplasia/hypoplasia in a mother (aplasia of the left tensor fasciae latae muscle) and her two children (aplasia of the left depressor anguli oris muscle, right hemidiaphragm hypoplasia), indicating autosomal dominant inheritance with variable expression (pleiotropy) as aetiology for the conditions.     

Congenital Torticollis Due to Sternomastoid Aplasia with Unilateral Cerebellar Hypoplasia: A Rare Association

Congenital torticollis is most commonly caused by sternomastoid contracture. Aplasia of sternomastoid muscle causing congenital torticollis, though rare, has been reported. However the association of cerebellar hypoplasia with sternomastoid aplasia is extremely rare. The authors describe a case of congenital torticollis due to absence of the left sternomastoid with ipsilateral cerebellar hypoplasia, confirmed by MRI.     

Aplasia cutis congenita

Two cases of aplasia cutis congenita are reported here. One of the cases also had pre- and postaxial polydactyly and other digital anomalies.     

Light Microscopic, Immunohistochemical, and Ultrastructural Findings in Congenital Fibular Aplasia or Hypoplasia (FAH)

Congenital aplasia or hypoplasia of the fibula (FAH) is a rare malformation that is defined by a partial or complete absence of the fibular bone. Etiology and pathogenesis are unknown and the precise morphology of the tissue cord replacing the malformed fibula has not been well described. Therefore, tissue cord was examined in 8 patients with FAH. Light microscopic, immunohistochemical, and electron microscopic investigations showed a core of embryonic cartilage with collagen II and VI expressions surrounded by connective tissue. Although collagen II expression is typical for chondroid differentiation, collagen VI reactivity is normally seen in articular cartilage and tendon-like fibrocartilaginous tissue but is absent in hyaline cartilage. Further ultrastructural analyses by electron microscopy supported these findings. The histomorphologic changes correspond to the histologic findings of Papenbrock et al. (2000, Mech Dev 92:113–123) who produced a congenital malformation in transgenic mice that resembled FAH by overexpression of Hox c11. This report is the doctoral thesis of Anne Stemper.