Clinical Dysmorphology最新文献_第2页

Developmental delay, white matter changes, and multiple endocrine hormone deficiencies in MADD-related disorders: a new case and phenotypic expansion. mad相关疾病的发育迟缓、白质改变和多种内分泌激素缺乏：一个新病例和表型扩展

IF 0.6 4区医学

Clinical Dysmorphology Pub Date : 2026-07-17 DOI: 10.1097/MCD.0000000000000574

Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Archana Varghese, G Lekshmi, H N Vani, Amena Nayyer, Dipali Rai, Bani Jolly, Vinod Scaria

引用次数: 0

Novel ABCA12 frameshift variant in a preterm infant with harlequin ichthyosis. 一种新的ABCA12移码变异在患有小丑鱼鳞病的早产儿中。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-03-02 DOI: 10.1097/MCD.0000000000000561

Ilkay Er, Senol Citli, Dilek Bektas, Hatice Bankoglu Yildirim, Ege Unal

引用次数: 0

Binder phenotype with palatal epulis in a girl with chromosome 5 duplication. 5号染色体重复的女孩的黏结型伴腭上唇。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-03-13 DOI: 10.1097/MCD.0000000000000560

Alison McHugh, Maureen J O'Sullivan, Sally Ann Lynch, Colleen Heffernan

引用次数: 0

Craniosynostosis in craniometaphyseal dysplasia: an expansion of phenotype. 颅干骺端发育不良的颅缝闭合：表型的扩展。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-05-27 DOI: 10.1097/MCD.0000000000000564

Jaynee Chauhan, Rachael Scullion, Siva Sithambaram

引用次数: 0

Case report of three siblings with nudix hydrolase 2 -related neurodevelopmental disorder. 兄弟姐妹3例裸水解酶2相关神经发育障碍报告。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-03-13 DOI: 10.1097/MCD.0000000000000555

Grace M A Logan, Richard Caswell, Nicholas Head, Deirdre E Donnelly

引用次数: 0

Lateral nasal proboscis associated with nasal glioma: a complex unilateral craniofacial malformation. 侧鼻伴鼻胶质瘤：一种复杂的单侧颅面畸形。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-05-27 DOI: 10.1097/MCD.0000000000000565

Zuhair Rahbeeni, Munirah AlSalman, Ahmad Qudair

引用次数: 0

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype. 眼骨牙综合征：临床和分子表型的扩展和回顾。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-03-02 DOI: 10.1097/MCD.0000000000000559

Maryam Al-Rashdi, Abir Al-Hadabi, Maha Mameesh, Anuradha Ganesh, Almundher Al-Maawali, Fakhriya Al-Azri

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引用次数: 0

Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features. 将Face2Gene分析整合到Van den Ende-Gupta综合征的诊断中，该综合征是由一种具有扩展骨骼和心脏特征的新型SCARF2突变引起的。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-05-27 DOI: 10.1097/MCD.0000000000000562

Varunvenkat M Srinivasan, Mayank Nilay, Rani Manisha

引用次数: 0

Expanding the phenotypic spectrum of neurodevelopmental disorder with seizures and gingival overgrowth: a case caused by a novel TBC1D2B variant, with hypertrichosis, white matter abnormalities, and progressive neurological decline. 扩大癫痫发作和牙龈过度生长的神经发育障碍的表型谱：1例由新型TBC1D2B变异引起，伴有多毛、白质异常和进行性神经功能衰退。

IF 0.5 4区医学

Clinical Dysmorphology Pub Date : 2026-07-01 Epub Date: 2026-03-12 DOI: 10.1097/MCD.0000000000000556

Tiago S Oliveira, Inês C Santos, Diana O Antunes

引用次数: 0

A rare RASopathy: Noonan syndrome-like disorder with loose anagen hair caused by a protein phosphatase 1 catalytic subunit beta pathogenic variant. 一种罕见的ras病：由蛋白磷酸酶1催化亚基β致病变异引起的Noonan综合征样疾病，伴有毛发生长期疏松。