We have previously reported on a consanguineous family where 2 siblings, a girl and a boy,
presented with tall stature, long and triangular faces, prominent forehead, telecanthus …

Abdominal hernias are common and characterised by the abnormal protrusion of a viscus
through the wall of the abdominal cavity. The global incidence is 18.5 million annually and …

Variants in EFEMP1, encoding Fibulin-3, were previously reported as a rare cause of
heritable connective tissue disorder (HCTD) with recurrent hernias and joint hypermobility …

Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of
diseases caused by pathogenic variants in genes encoding different components of the …

Phenotypic features of a hereditary connective tissue disorder, including craniofacial
characteristics, hyperextensible skin, joint laxity, kyphoscoliosis, arachnodactyly, inguinal …

Background Amputation of the second toe is associated with destabilization of the first toe.
Possible consequences are hallux valgus deformity and subsequent pressure ulcers on the …

Myopia is a leading cause of visual impairment worldwide, whose pathogenesis remains
poorly understood. We comprehensively performed phenome-wide Mendelian …

La hernia inguinal abdominal sigue siendo hoy en día una de las patologías que más
frecuentemente requiere tratamiento quirúrgico. Las técnicas para su reparación quirúrgica …

Abstract Using Next Generation Sequencing technics, we revisited 42 personal publications
on rare or firstly described syndromes. Four syndromes were found to have been …

Inguinal hernia is still today one of the most common procedures performed by general
surgeons. The techniques for abdominal wall surgical repair are around 20% of all general …