Hypertension and brachydactyly syndrome (HTNB; MIM 112410) is a rare, recently described, autosomal dominant syndromic disease characterized by the triad of brachydactyly type E (BDE), short stature, and hypertension. HTNB is caused by a heterozygous mutation in the PDE3A (MIM 123805) gene on chromosome 12p12; this gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase family. PED3A plays a role in many signal transduction pathways, including those involved in vascular smooth muscle proliferation and contraction, cardiac contractility, platelet aggregation, and hormone secretion. Here, we present a new case of HTNB in a 42-year-old patient who experienced recurrent ischemic strokes in various vascular territories; these strokes were caused by intracranial multiarterial dissection, and were experienced for 2 weeks. She was found to harbor a de novo heterozygous in-frame deletion, c.1333_1335del p.(Thr445del), in exon 4 of the PDE3A gene. Our finding is expected to contribute to the elucidation of the pathophysiology of stroke in HTNB patients. We further review all clinical and molecular genetic features of this rare disease described in the literature to date.

高血压和近距离畸形综合征（HTNB； MIM 112410）是一种罕见的，最近描述的常染色体显性遗传综合征，特征为近距离E型（BDE），身材矮小和高血压三联征。HTNB是由PDE3A中的杂合突变引起的（MIM 123805）基因位于12p12号染色体上；该基因编码cGMP抑制的环状核苷酸磷酸二酯酶家族的成员。PED3A在许多信号转导途径中起作用，包括那些参与血管平滑肌增殖和收缩，心脏收缩，血小板聚集和激素分泌的途径。在这里，我们介绍了一名新的HTNB病例，该病例是一名42岁的患者，该患者在不同的血管区域经历了反复发作的缺血性卒中。这些中风是由颅内多动脉夹层引起的，经历了2周。发现她在PDE3A的第4外显子中具有从头杂合的框内缺失，即c.1333_1335del p。（Thr445del）。基因。我们的发现有望有助于阐明HTNB患者中风的病理生理学。我们将进一步审查迄今为止文献中描述的这种罕见疾病的所有临床和分子遗传学特征。