Spadoni Emanuela, Castelnovi Claudia, Maraschio Paola, Stacul Elisabetta, Beluffi Giampiero, Bozzola Mauro, Danesino Cesare
Dipartimento di Patologia Umana ed Ereditaria, Sezione di Biologia Generale e Genetica Medica, Università degli Studi di Pavia, Via Forlanini 14, 27100 Pavia, Italy.
Am J Med Genet A. 2004 Jul 1;128A(1):57-9. doi: 10.1002/ajmg.a.30037.
Stratton and Parker [1989] described a 17-month-old boy with the previously unreported combination of growth hormone (GH) deficiency, Wormian bones, mild developmental delay, brachycamptodactyly, heart defects, kidney hypoplasia, imperforate anus, bilateral cryptorchidism, and facial anomalies. A similar case was later reported by Gabrielli et al. [1994], who suggested the existence of a "Stratton-Parker syndrome." Here, we describe a boy with isolated GH deficiency, body asymmetry, and brachycamptodactyly. At birth, complete anorectal agenesis and cryptorchidism were detected, which required surgical treatment. Radiographic examination showed the presence of bilateral proximal radioulnar subluxation and Kirner anomaly. Brain MRI showed asymmetry of the posterior horns of the lateral ventricles and enlarged cisterna magna. Psychomotor development had been mildly delayed during the first years of life. Due to the unique association of GH deficiency with intestinal, genital, and limbs abnormalities, we believe that our patient may represent a further case of Stratton-Parker syndrome. All patients reported, till date, are sporadic males born to healthy nonconsanguineous parents. X-linked recessive inheritance is a possibility to consider.
斯特拉顿和帕克[1989年]描述了一名17个月大的男孩，其患有生长激素（GH）缺乏症、缝间骨、轻度发育迟缓、短指畸形、心脏缺陷、肾发育不全、肛门闭锁、双侧隐睾症和面部异常，这种组合此前未见报道。加布里埃利等人[1994年]后来报告了一个类似病例，他们提出存在一种“斯特拉顿 - 帕克综合征”。在此，我们描述一名患有孤立性生长激素缺乏症、身体不对称和短指畸形的男孩。出生时，检测到完全性肛门直肠闭锁和隐睾症，需要进行手术治疗。影像学检查显示双侧近端桡尺关节半脱位和柯纳畸形。脑部磁共振成像显示侧脑室后角不对称和枕大池扩大。在生命的最初几年，精神运动发育轻度延迟。由于生长激素缺乏症与肠道、生殖器和肢体异常的独特关联，我们认为我们的患者可能代表斯特拉顿 - 帕克综合征的又一病例。迄今为止报道的所有患者均为散发性男性，其父母健康且非近亲结婚。X连锁隐性遗传是一种需要考虑的可能性。
