X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy ...

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity ...

Fathers and mothers of Down's syndrome cases show dermal microsymptoms when a large series of parents are compared to the general population. A Walker dermal index score in the overlap range (-2·99 to ...

Department of Paediatrics, Queen's University, Kingston, Ontario, Canada. The number of gene assignments to human chromosome 20 has increased slowly until recently. Only seven genes and one fragile ...

Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed ...

Several investigators have suggested that the Marshall syndrome and the Weaver syndrome are one entity because of some phenotypic overlap. This paper reviews the findings in nine additional patients ...

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1 Department of Paediatric Ophthalmology, Strabismology, and Ophthalmogenetics, Klinikum, University of Regensburg, 93042 Regensburg, Germany 2 Department of Neurosurgery, Klinikum, University of ...

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED ...

Thirty-six infants were identified by cytogenetic screening at birth as having balanced rearrangements of their autosomes, and 30 of them took part in a longitudinal study of their development, ...

Background: Ectodermal dysplasias are developmental disorders affecting tissues of ectodermal origin. To date, four different types of ectodermal dysplasia involving only hair and nails have been ...

1 Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands 2 School for Oncology and Developmental Biology, Maastricht University ...