Recently we described a previously apparently undescribed autosomal recessive syndrome in two sib fetuses with situs inversus totalis, cystic dysplastic kidneys and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation, and oligohydramnios. This syndrome differs f
Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs
✍ Scribed by Kaplan, Bernard S.; Bellah, Richard D.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 30 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19991222)87:5<426::aid-ajmg10>3.0.co;2-w
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✦ Synopsis
We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnarmammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.
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We report on a male fetus with partial trisomy 2p21-2pter and monosomy 15q26-15qter due to t(2,15)(p21;q26). This fetus had a typical trisomy 2p phenotype including minor facial anomalies, musculoskeletal defects and two unusual findings: polydactyly and anencephaly. The observation of anencephaly a
We describe two sib fetuses with situs inversus, cystic dysplastic kidney and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation (IUGR), and oligohydramnios. Early prenatal diagnosis of pancreatic and dysplastic renal cysts and situs inversus totalis were made
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