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. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries.Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.
《临床畸形学》发表了关于出生缺陷的病因学、临床描述、遗传图谱和分子胚胎学的简明病例报告。该杂志涵盖多种先天性异常综合征等主题-特别强调以前未描述的情况、罕见发现、现有综合征的种族差异、胎儿异常和可能为发育基因定位给予线索的细胞遗传学异常。常规功能包括原始的，同行评审的文章，会议报告，书籍和软件评论，摘要和摘要从英国畸形学俱乐部，和文献摘要。提交的文章经过编辑的初步审查。有些文章可能会被退回给作者而不作进一步考虑。那些被考虑出版的出版物将接受编辑和来自审稿人库的被邀请者的进一步评估和同行评审。
Expansion of phenotype of DDX3X syndrome: six new cases.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000289
Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000244
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000279
Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000287
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.
来源期刊：Clinical dysmorphologyDOI：10.1097/mcd.0000000000000298
Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000260
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000262
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000282
GATAD2B-related intellectual disability due to parental mosaicism and review of literature.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000288
Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000255
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000241
Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000261
A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000259
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000252
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000294
UBE2A-related X-linked intellectual disability
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000242
Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000277
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000258
LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000254
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000275
Does the clinical phenotype of mucolipidosis-III&ggr; differ from its &agr;&bgr; counterpart?: supporting facts in a cohort of 18 patients
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000249
Klippel-Feil syndrome: a review of the literature.
来源期刊：Clinical dysmorphologyDOI：10.1097/mcd.0000000000000301
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000248
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.
来源期刊：Clinical dysmorphologyDOI：10.1097/mcd.0000000000000311
SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000293
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000299
Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000281
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000306
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000269
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation
来源期刊：Clinical DysmorphologyDOI：10.1097/MCD.0000000000000250
Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.
来源期刊：Clinical dysmorphologyDOI：10.1097/MCD.0000000000000245
