Terkko Navigator / Clinical Dysmorphology

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.

Congenital dermoid inclusion cyst over the anterior fontanel in Chinese children.

Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa.

Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature.

Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion.

Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome.

Novel HOXA2 variant presenting with microtia and variable hearing impairment in four-generation pedigree.

A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.

Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum.

A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype.

Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome.

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

Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia.

Congenital dermoid inclusion cyst over the anterior fontanel in Chinese children.

Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa.

Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature.

Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion.

Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome.

Novel HOXA2 variant presenting with microtia and variable hearing impairment in four-generation pedigree.

A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.

Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum.

A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype.

Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome.

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

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.