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ISSN  :   0962-8827 ( Print )   |   1473-5717 ( Online )   Active

Clinical Dysmorphology

Aim & Scope
Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes--with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. [1]

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2023
9 RESULTS in 10 msec
2023-05-12
Extending the phenotype of Shashi-Pena syndrome: a case report and review of literature.

SKL Ho , SSW Cheng , THT Cheng , ... , HM Luk

Clinical Dysmorphology , 2023

 
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2023-05-08
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus.

P Majethia , R Harish , DL Narayanan , ... , A Shukla

Clinical Dysmorphology , 2023

 
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2023-05-08
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly.

T Tkemaladze , E Bratland , K Bregvadze , ... , S Douzgou

Clinical Dysmorphology , 2023

 
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2023-05-01
DEGS1-related leukodystrophy: a clinical report and review of literature.

MST Wong , T Thomas , JY Lim , ... , AL Koh

Clinical Dysmorphology , 2023

 
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2023-05-01
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype.

M Wafik , H Kuoppamaa , P Hirani , ... , M Holder-Espinasse

Clinical Dysmorphology , 2023

 
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2023-05-01
Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld-Rieger syndrome: case report and review of literature.

ASY Hong , JY Lim , MS Isa , ... , SS Jamuar

Clinical Dysmorphology , 2023

 
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2023-05-01
Fetal methotrexate syndrome following an unsuccessful medication abortion - a rare syndrome posed to become more common.

PW Joslyn , AK Barkemeyer , RW Gupta , BM Barkemeyer

Clinical Dysmorphology , 2023

 
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2023-05-01
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.

T Cinleti , A Gülen , B Sönmez , ... , AO Çağlayan

Clinical Dysmorphology , 2023

 
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2023-02-28
Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family.

MC do Rosario , G Purushothama , DL Narayanan , ... , A Shukla

Clinical Dysmorphology , 2023

 
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