Terkko Navigator / Clinical Dysmorphology

Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.

Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders.

A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.

Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.

Myhre syndrome: a report of six Chinese patients and literature review.

Further delineation of DDX3X syndrome.

Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome.

Unusual association of Mayer-Rokitansky-Kuster-Hauser and Sotos syndromes: a case report.

Dual diagnosis causing severe phenotype in a patient with Angelman syndrome.

Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant.

Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype.

Stuve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.

Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

A rare mutation of retinoic acid receptor-[beta] associated with lethal neonatal Matthew-Wood syndrome.

Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature.

LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings.

Meier-Gorlin syndrome: an additional case report in an adult woman.

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene.

De novo Xq21.31-q21.32 duplication in intellectual disability: a new report.

Stuve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.

Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family.

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

A rare mutation of retinoic acid receptor-[beta] associated with lethal neonatal Matthew-Wood syndrome.

Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature.

LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings.

Meier-Gorlin syndrome: an additional case report in an adult woman.

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene.

De novo Xq21.31-q21.32 duplication in intellectual disability: a new report.

UBE2A-related X-linked intellectual disability.

Does the clinical phenotype of mucolipidosis-III[gamma] differ from its [alpha][beta] counterpart?: supporting facts in a cohort of 18 patients.

Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.

A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.

Type VI syndactyly with skeletal dysplasia: a new syndrome?.

Intrafamilial variability of clinical features in distal arthrogryposis type 2B.

The first report of fibular agenesis, tibial campomelia, and oligosyndactyly syndrome with hydrocephaly.

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.

Ophthalmic manifestations associated with RARB mutations.

Congenital lateral abdominal wall defect in two Congolese children.

Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature.

Oculoauriculovertebral spectrum with 5p15.33-pter deletion.