CRANIOFACIAL, LIMB, AND ABDOMINAL ANOMALIES IN A DISTINCT SYNDROME - RELATION TO THE SPECTRUM OF PFEIFFER SYNDROME TYPE-3
CRANIOFACIAL, LIMB, AND ABDOMINAL ANOMALIES IN A DISTINCT SYNDROME - RELATION TO THE SPECTRUM OF PFEIFFER SYNDROME TYPE-3
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DOI：
10.1002/ajmg.1320450616
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发表时间：
1993-03-15
期刊：
影响因子：
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通讯作者：
SHPRINTZEN, RJ
中科院分区：
文献类型：
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作者：
BARONE, CM;MARION, R;SHPRINTZEN, RJ
报告2例颅面部、四肢和腹部异常的患者，其特征可能与Pfeiffer综合征3型一致。两例患者均有双冠和双蝶骨骨性结合，极端的突眼性面中部发育不全和脑积水。四肢肘部有固定屈曲畸形，拇指宽，桡掌偏斜;脚趾宽，内翻畸形，脚趾2-5并指。两名患者均发生继发于中肠旋转不良的肠梗阻，其中一名患者出现梅干腹综合征。回顾文献，发现另外一例患者，回顾起来，患有3型普发弗综合征和中肠旋转不良。这些病人表明，肠旋转不良伴或不伴梅干腹综合征可能是一个共同的组成部分，这一实体。
Presented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer syndrome, type 3. Both patients had bicoronal and bisphenoidal synostosis, extreme exophthalmic midface hypoplasia, and hydrocephalus. The limbs had a fixed flexion deformity of the elbows with broad thumbs which were radiopalmarly deviated; the toes were broad with a varus deformity and syndactyly of toes 2-5. Both patients developed bowel obstruction secondary to midgut malrotation, and one of the patients had prune belly syndrome. Review of the literature disclosed an additional patient who, in retrospect, had Pfeiffer syndrome type 3 and midgut malrotation. These patients suggest that intestinal malrotation with or without prune belly syndrome may be a common component of this entity.