Laboratory of Medical Genetics, Emergency Clinical County Hospital Târgu Mureș, 540136 Târgu Mureș, Romania.
Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș, 540142 Târgu Mureș, Romania.
Genes (Basel). 2020 May 28;11(6):596. doi: 10.3390/genes11060596.
Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the gene associate mild intellectual disability (ID), between exons 5 to 8, moderate to severe ID and sometimes have some of the characteristics of PTHS, and variants starting from exon 9 to exon 20 associate a typical PTHS phenotype. In this report, we describe the clinical and molecular findings of a Caucasian boy diagnosed with PTHS. PTHS phenotype is described including craniofacial dysmorphism with brachycephaly, biparietal narrowing, wide nasal bridge, thin and linear lateral eyebrows, palpebral edema, full cheeks, short philtrum, wide mouth with prominent and everted lips, prominent Cupid's bow, downturned corners of the mouth, microdontia and also the clinical management of the patient. The previously and the current diagnosis scores are described in this report and also the challenges and their benefits for an accurate and early diagnosis.
皮特霍普金斯综合征（PTHS）是一种非常罕见的疾病，到目前为止，全世界大约有 500 名患者被报道，其中并非所有人都经过基因确认。通常，受影响基因外显子 1 到 5 的变异的个体与轻度智力障碍（ID）相关，受影响外显子 5 到 8 的个体与中度至重度 ID 相关，有时具有 PTHS 的一些特征，而从外显子 9 到外显子 20 开始的变异则与典型的 PTHS 表型相关。在本报告中，我们描述了一名被诊断为 PTHS 的白种男孩的临床和分子发现。描述了 PTHS 表型，包括短头畸形、顶骨和枕骨变窄、宽鼻梁、薄而线性的外侧眉毛、眼睑水肿、饱满的脸颊、短人中、宽口、突出和外翻的嘴唇、明显的丘比特弓、嘴角下垂、小牙以及患者的临床管理。本报告描述了先前和当前的诊断评分，以及准确和早期诊断的挑战及其益处。
