Terkko Navigator / Clinical Dysmorphology

Phenotypic variability in Muenke syndrome-observations from five Danish families.

Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.

A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.

Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.

Klippel-Feil syndrome: a review of the literature.

Fetal aortopulmonary window associated with urorectal malformation and common cloaca.

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.

Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome.

A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations.

Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy.

A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type.

A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease.

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.

Phenotypic variability in Muenke syndrome-observations from five Danish families.

Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants.

A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family.

Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene.

Klippel-Feil syndrome: a review of the literature.

Fetal aortopulmonary window associated with urorectal malformation and common cloaca.

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.

Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome.

A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations.

Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy.

A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type.

A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease.

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.

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.