Our genetic testing and medical expertise provide the most effective combination to understand the underlying causes of malformation and retardation syndromes. Congenital malformations (“birth defects”) remain a leading cause of infant mortality and childhood morbidity. By offering comprehensive and rapid testing options, you can provide your patients with clear results for inherited malformation syndromes.
Articles on Dysmorphology
Broadening the Phenotypic Spectrum of Pathogenic LARP7 Variants: Two Cases with Intellectual Disability, Variable Growth Retardation and Distinct Facial Features
In 2012 Alazami et al. described a novel syndromic cause of primordial dwarfism with distinct facial features and severe intellectual disability. Our cases broaden the associated clinical features of the syndrome and contribute to the delineation of the phenotypic spectrum of LARP7 mutations.
PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN activity has not been reported so far and animal models suggest that bi-allelic loss of PTEN activity is…