Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed ...

Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Federal Republic of Germany. We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, ...

Objectives Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention ...

a Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Primary Care and Population Sciences, University College Medical School, Royal Free Campus, Rowland Hill Street, ...

A 9-year-old boy with classical clinical features of trisomy 13 (Patau's syndrome), with confirmation on chromosome analysis of blood and skin, is reported in view of his relative longevity.

1 Centre of Human and Aerospace Physiological Sciences, King's College London, London, UK Correspondence to Julien Ochala, Centre of Human & Aerospace Physiological Sciences, Faculty of Life Sciences ...

a Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charité University Hospital, Humboldt University, D-10098 Berlin, Germany, b Department of Pediatrics and Munroe Center ...

Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic ...

Hypochondroplasia (HCH) is an autosomal dominant condition characterised by short stature, micromelia, and lumbar lordosis. In a series of 29 HCH probands (13 sporadic cases, 16 familial cases), we ...