Hall J G, Reed S D, Rosenbaum K N, Gershanik J, Chen H, Wilson K M
Am J Med Genet. 1982 Aug;12(4):377-409. doi: 10.1002/ajmg.1320120404.
Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here. Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (Patients 1-7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability. Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low-set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon. One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low-set ears with slit-like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia.
作为一项对350多名先天性多发性关节挛缩症婴儿的研究的一部分，对伴有肢体翼状胬肉和先天性挛缩的病症进行了回顾。重点关注了不同翼状胬肉病症的遗传方式和变异性。在我们的研究中识别出11例肢体翼状胬肉患者并在此进行描述。350例先天性挛缩患者中有7例患有常染色体隐性遗传的多发性翼状胬肉综合征（患者1 - 7）。这7例中的3例是同胞，第4例的父母是近亲结婚，另外3例是偶发的孤立病例。这7例患者有多处关节蹼、异常的手指挛缩、并指、摇椅底足、上睑下垂、睑裂反蒙古样倾斜、内眦赘皮、高拱腭、脊柱侧弯和身材矮小。存在家族内变异性。来自一个家庭的3例患者患有致死性多发性翼状胬肉综合征。其中2例是单卵双胞胎。他们有肘部、膝部、颈部和手指的蹼和挛缩，足部跟骨外翻畸形，以及异常的面部外观：眼距过宽、扁平鼻、睑裂反蒙古样倾斜、耳朵明显低位。其中1例有腭裂。内部畸形包括：双侧肺发育不全、心脏小、阑尾缺如以及升结肠和横结肠变细。研究了1例散发的伴有面部裂隙的致死性腘窝翼状胬肉病例。多种异常包括：先天性睑球粘连、睑裂上斜、鼻软骨发育不全、系带、口外侧通向口咽的裂隙、耳朵明显低位且外耳道呈裂隙状、巨大腘窝翼状胬肉、手足所有手指融合的并指以及阴唇发育不全。
