Total: 2 |
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PMID (PMCID) | ||
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14608644 |
MIXED_SAMPLE | Infant, Newborn |
Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome. | ||
Veenstra-Knol HE, Kleibeuker A, Timmer A, ten Kate LP, van Essen AJ. Am J Med Genet A. 2003;123A(3):243-8. |
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Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, genital abnormalities, and typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, orofacial clefts, and small mouth. | ||
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. |