Popliteal pterygium and multiple pterygium syndromes

Moerman, Philippe

doi:10.1002/1096-8628(20010415)100:1<81::aid-ajmg1208>3.0.co;2-0

Cited by 3 publications

(1 citation statement)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Another syndrome presented as a different entity in the OMIM catalogue [ 11 ]; the multiple pterygium syndrome, Aslan type (OMIM 605203) [ 10 ], has a strong resemblance to BPS cases. Interestingly, Teebi et al [ 12 ] and Fryns and Moerman [ 13 ] suggested that the disorder reported by Aslan et al [ 10 ] was BPS. We believe that the definite demarcation maybe difficult at this stage and it will not be until the gene for BPS is known that we will be able to split or merge these syndromes appropriately.…”

Section: Discussionmentioning

confidence: 99%

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

Abdalla

Morsy

2011

Case Reports in Genetics

View full text Add to dashboard Cite

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 the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy.

show abstract