Total: 4 |
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PMID (PMCID) | ||
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23074676 (3447233) |
OTHER | |
Bartsocas-papas syndrome: unusual findings in the first reported egyptian family. | ||
Abdalla EM, Morsy H. Case Rep Genet. 2011;2011:428714. |
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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. | ||
23074676 (3447233) |
OTHER | |
Bartsocas-papas syndrome: unusual findings in the first reported egyptian family. | ||
Abdalla EM, Morsy H. Case Rep Genet. 2011;2011:428714. |
||
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. | ||
23074676 (3447233) |
OTHER | |
Bartsocas-papas syndrome: unusual findings in the first reported egyptian family. | ||
Abdalla EM, Morsy H. Case Rep Genet. 2011;2011:428714. |
||
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. | ||
10517476 |
FEMALE | Infant |
Bartsocas-Papas syndrome with fusion of the lips and posterior fusion defects of the thoracic vertebrae. | ||
Mavili ME, Karamursel S, Vargel I, Erk Y. Ann Plast Surg. 1999;43(4):443-5. |
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Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies. |