Matthew-Wood syndrome
Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers
Fraser and Ablepharon macrostomia phenotypes
Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies
A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature
De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation
Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association
Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement
KBG syndrome
Hypothyroidism-retardation-dysmorphism (HRD)
Response to letter to the editor