Terkko Navigator / Clinical Dysmorphology

Expansion of phenotype of DDX3X syndrome: six new cases.

Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.

GATAD2B-related intellectual disability due to parental mosaicism and review of literature.

16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay.

Phenotypic delineation of a 12q21 deletion syndrome.

Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype.

SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2.

TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome.

A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.

Expanding the phenotype of Filippi Syndrome: a patient with early onset puberty.

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.

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.