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An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins
Author(s) -
Dundar Munis,
Demiryilmaz Fatma,
Demiryilmaz Ilhan,
Kumandas Sefer,
Erkilic Kuddusi,
Kendirci Mustafa,
Tuncel Mehmet,
Ozyazgan Isilay,
Tolmie John L
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02417.x
Subject(s) - palpebral fissure , medicine , arthrogryposis , anatomy , abnormality , arachnodactyly , dysostosis , short stature , psychomotor retardation , camptodactyly , pediatrics , surgery , congenital disease , pathology , psychiatry , marfan syndrome , alternative medicine
Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late‐closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.