Bartsocas-Papas syndrome.

Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report t...

Blue sclerae with keratoglobus and brittle cornea.

A Family from Turkey with Bartsocas-Papas Syndrome.

A 34-year-old pregnant Turkish woman was admitted to the emergency service because of contractions at 33 weeks. Her vaginal examination revealed 8-9 cm cervical dilatation and 80-90% effacement. Fetal membranes were intact, and the fetus had a vertex presentation. Shortly after, she had a vaginal delivery. The newborn had mid-facial cleft, low-set ears, cleft lip, bilateral pterygia, ambiguous ...

Unusual ocular findings in an infant with cri-du-chat syndrome.

A newborn male with cri-du-chat syndrome, congenital nuclear cataracts, microspherophakia, and probably ectopic lenses is reported. Microspherophakia in cri-du-chat syndrome has not been previously described. The congenital cataracts were inherited from his mother who had a balanced 5;13 translocation; the two events are considered to be coincidental and a possible 'position effect' was exclude...

Periderm prevents pathological epithelial adhesions during embryogenesis.

Appropriate development of stratified, squamous, keratinizing epithelia, such as the epidermis and oral epithelia, generates an outer protective permeability barrier that prevents water loss, entry of toxins, and microbial invasion. During embryogenesis, the immature ectoderm initially consists of a single layer of undifferentiated, cuboidal epithelial cells that stratifies to produce an outer ...