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Bartsocas-Papas syndrome
Synonyms:
Poplieta pterygium lethal type, pterygium syndrome.
Associated persons:
Christos S. Bartsocas
Constantine V. Papas
Description:
A severe autosomal recessive form of the poplietal pterygium syndrome in children of consanguinous parents,characterized by low birth weight, microcephaly ankyloblepharon, corneal ulcers, filiform bands between the jaws, cleft palate and lip, hypoplastic, low-set ears, lanugp, absent thumb, syndactyly of the fingers and toes, pes equinovarus, bilateral poplieteal pterygium, hypoplastic nails, genital abnormalities, and bone abnormalities of the hands and feet. Present at birth. Affects both sexes.
Bartsocas and Paps initially defined the disease picture in 1972 based on a family of four siblings from consanguine relations.
Bibliography:
- C. S. Bartsocas, C. V. Papas:
Poplietal pterygium syndrome. Evidence for a severe autosomal recessive form.
Journal of Medical Genetics, London, 1972, 9: 222-226.
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