A new autosomal recessive syndrome with abducted thumb, brachydactyly, rocker bottom feet and joint deformities: significance of detailed prenatal ultrasonography confirmed by post-mortem examination

For a reliable genetic counseling concerning following offspring it is of primary importance to describe fetal malformations in detail during pregnancy. We report on two fetuses with hand and foot abnormality first diagnosed by prenatal ultrasonography.
Case 1. The female fetus was the product of consanguineous couples (third cousins). The mother was referred at 23th week of gestation because of ultrasonographic abnormality and anomalous fetus history of the first pregnancy. Karyotype of cultured amnioctyes was normal. The pregnancy was terminated at 24th week. Postnatal examination showed asymmetric face, high forehead, hypertelorism, flat nose, dysplastic ears, and hypoplastic mandible. The extremities were short. On the right hand there was a complete cutaneous syndactyly of the fingers 4-5 and partial webbing of fingers 2-3 and 4-5. 1st toes were bowed laterally. Fingers 2-5 were deviated laterally. Rocker-bottom feet, wide metatarsals and flexion deformities of both knees were other remarkable features. The autopsy was normal.
Case 2. Third pregnancy was terminated at 17th week of gestation due to the similar abnormalities. Postmortem examination showed mild facial dysmorphism with oedematous eye lids, hypertelorism, and depressed nose. At first sight short extremities were noted. There were flexion deformities of hands and knees. 1st toes were bowed laterally. Internal organs and placenta were normal.
The main compenents of fetuses are mild facial dismorphism, short extremities, brachydactyly, adducted thumb, rocker bottom feet, laterally placed 1th toes and a wide gap between 1st ve 2nd toes. This findings are not consistent with any previously recognised syndrome and represent a new condition with possible autosomal recessive inheritance.

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