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Bartsocas-Papas syndrome in an Arab family with four affected sibs: Further characterization

โœ Scribed by Massoud, Ahmad A.; Ammaari, Amer N.; Khan, A.S.S.; Katraman, Bhat Ven; Teebi, Ahmad S.

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
35 KB
Volume
79
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980827)79:1<16::aid-ajmg5>3.0.co;2-g

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โœฆ Synopsis

Bartsocas

-Papas syndrome is a severe autosomal recessive popliteal pterygium syndrome. Other anomalies include microcephaly, facial clefts, filiform bands, ankylob l e p h a r o n , s y n d a c t y l y , a n d o t h e r ectodermal and nonectodermal anomalies. We report on four Arab sibs with manifestations of this syndrome and some additional traits that include cutis aplasia, widely spaced nipples, low-set umbilicus, and unilateral renal hypoplasia among others. One was stillborn, and the other three children lived 10-17 months. Parents were nonconsanguineous, derived from different Bedouin tribes in Qatar and the United Arab Emirates. Similar cases from the literature are reviewed. Am.

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