Hashem Anas, Ourfahli Nada K, Mohamadiyeh Amjad M, Khalouf Amani, Adra Saryia
Department of Internal Medicine, Rochester Regional Health, Rochester, USA.
Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, ARE.
Cureus. 2025 Mar 22;17(3):e80981. doi: 10.7759/cureus.80981. eCollection 2025 Mar.
Kabuki syndrome (KS) is a rare genetic syndrome with an unknown exact etiology with suggestive autosomal dominant inheritance pattern with variable expressivity and environmental influences. KS is diagnosed based on five cardinal signs: craniofacial dysmorphia, skeletal anomalies, dermatoglyphic abnormalities, mental retardation, and postnatal growth deficiency. An eight-year-old Jordanian girl was diagnosed with KS based on characteristic clinical features at the age of four. The patient presented typical facies of KS, with elongated palpebral fissure and the eversion of the lateral part of the lower 1/3 of the eyelid; skeletal and limb abnormalities, including the early closure of the anterior fontanel; cardiogenic manifestations; global developmental delays; moderate hearing impairment; and strabismus with bilateral hyperopia. Patients with KS have various skeletal, mainly cranial, anomalies, including coronal and metopic synostosis. Cardiac malformations and aortic coarctation more commonly occur in male KS patients, supporting the X-linked hypothesis. The most common ophthalmic abnormalities in KS are strabismus and ptosis. In addition, both dental and otologic problems are common in KS. Finally, mild to moderate cognitive impairment in KS leads to significant language delays. KS is primarily diagnosed based on clinical presentation even with significant variability in the associated anomalies. In this case, we discuss the first female Kabuki syndrome (KS) patient in the United Arab Emirates (UAE) who presented with moderate to severe aortic coarctation and underwent corrective surgery with balloon dilation twice at the age of four. The patient underwent confirmatory genetic testing, identifying a heterozygous variant in the gene. A multidisciplinary team including a general pediatrician, cardiologist, neurologist, orthopedics specialist, ophthalmologist, otolaryngologist, and other specialties is needed to improve the course and prognosis of KS patients and to enhance the quality of life.
歌舞伎综合征（KS）是一种罕见的遗传综合征，确切病因不明，具有提示性的常染色体显性遗传模式，表现度可变且受环境影响。KS根据五个主要体征进行诊断：颅面畸形、骨骼异常、皮纹异常、智力发育迟缓以及出生后生长发育迟缓。一名8岁的约旦女孩在4岁时根据特征性临床特征被诊断为KS。该患者呈现出KS的典型面容，睑裂延长，下眼睑外侧1/3外翻；骨骼和肢体异常，包括前囟早闭；心脏表现；全面发育迟缓；中度听力障碍；以及双眼远视性斜视。KS患者有各种骨骼异常，主要是颅骨异常，包括冠状缝和额缝早闭。心脏畸形和主动脉缩窄在男性KS患者中更常见，支持X连锁假说。KS最常见的眼科异常是斜视和上睑下垂。此外，牙齿和耳科问题在KS中也很常见。最后，KS患者轻度至中度的认知障碍导致明显的语言发育迟缓。KS主要根据临床表现进行诊断，即使相关异常存在显著差异。在本病例中，我们讨论了阿拉伯联合酋长国（UAE）首例患有中度至重度主动脉缩窄并在4岁时接受两次球囊扩张矫正手术的女性歌舞伎综合征（KS）患者。该患者接受了确诊的基因检测，在该基因中鉴定出一个杂合变异。需要一个包括普通儿科医生、心脏病专家、神经科医生、骨科专家、眼科医生、耳鼻喉科医生和其他专科医生的多学科团队，以改善KS患者的病程和预后，并提高生活质量。
