An autosomal recessive adducted thumb‐club foot syndrome observed in Turkish cousins

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...

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Bibliographic Details
Published in:Clinical genetics 1997-01, Vol.51 (1), p.61-64
Main Authors: Dundar, Munis, Demiryilmaz, Fatma, Demiryilmaz, Ilhan, Kumandas, Sefer, Erkilic, Kuddusi, Kendirci, Mustafa, Tuncel, Mehmet, Ozyazgan, Isilay, Tolmie, John L
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
adducted thumbyy
Adult
Biological and medical sciences
Child, Preschool
Chromosome Aberrations - genetics
Chromosome Disorders
club foot
Complex syndromes
Consanguinity
eye abnormality
Face - abnormalities
Female
Foot Deformities, Congenital - genetics
Genes, Recessive
Humans
Hypertelorism - genetics
Infant
Infant, Newborn
Male
Medical genetics
Medical sciences
mental handicap
Pregnancy
Psychomotor Disorders - genetics
Thumb - abnormalities
Turkey
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Summary: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.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.1997.tb02417.x