A Case report of Expanding the clinical spectrum of Van Maldergem Syndrome in Hasti genetic counselling centre in south Khorasan

Background and Aim : Van Maldergem Syndrome (VMS) is an extremely rare genetic condition characterized by craniofacial abnormalities, microtia with conductive hearing loss, feeding difficulties, limb abnormalities fixed flexion deformities, syndactyly, and skeletal abnormalities. Biallelic mutations in FAT4 and DCHS1 are associated with VMS. We describe 1 individual with a novel homozygous mutation in FAT4 with clinical features consistent with VMS.Methods : whole exom sequencening Results : The clinical features of a 42- day girl at present in genetic counselling centre was include: hypotonia , limb deformity including equinovarus, fixed flexion deformities of fingers, semian crease and syndactyly, increase of DTR, hepatomegaly, wide fontanel, high arch palate, microtia, low set ear and auricle deformity, with conductive hearing loss, hypertelorism and refractive error, epicantal fold, down slanted palpebral fissure, wide nasal bridge, microgenatia, hirsutism and curly hear in physical exam and paraclinic was include ,ASD and TR in echocardiography as cardiac abnormality, normal brain and renal sonography , light brain atrophy in brain MRI and she had several hospitalization due to chest infection in the age of 4 month in her past medical history. In genetic evaluation karyotype was normal but monogenic disorder was found in WES procedure. Conclusion : This study supports FAT4(c.13593_13594insC in exon17, Chr4:126411570) as causes of VMS and expands the phenotype to include individuals with higher cognitive function, congenital heart disease.

کلیدواژه ها:

Van Maldergem ، FAT4 ، craniofacial abnormalities ، limb abnormalities