Bartsocas-Papas syndrome

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


合計: 1

                      


(表示件数)
PMID (PMCID)
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.
Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.