✦ LIBER ✦

Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts

✍ Scribed by Balc?, Sevim; Bostano?lu, Sevin�; Alt?nok, G�l�in; �zalt?n, Fatih

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 66 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000131)90:3<185::aid-ajmg1>3.0.co;2-y

No coin nor oath required. For personal study only.

✦ Synopsis

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 from that of Ivemark and related syndromes due to lack of liver involvement. After these two sibs, this consanguineous family had a third child and an early prenatal diagnosis of pancreatic and dysplastic renal cysts was made in the 19.5week-old fetus. The last case supports the genetic hypothesis.

📜 SIMILAR VOLUMES

Sibs diagnosed prenatally with situs inv

Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts: A new syndrome?

✍ Balc?, Sevim; Bostano?lu, Sevin�; Alt?nok, G�l�in; �zalt?n, Fatih 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 2 views

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

Ventriculomegaly with radial and renal d

Ventriculomegaly with radial and renal defects: Prenatal diagnosis in two consecutive sibs

✍ Kovács, Tamás; Csécsei, Károly; Szabó, Mária; Tóth, Zoltán; Veress, Lajos; Papp, 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

We describe two consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association with severe ventriculomegaly. We compare this apparently autosomal recessive syndrome to VACTERL-H association, Fanconi anemia, and two other, so far unpara

Prenatal diagnosis of Walker-Warburg syn

Prenatal diagnosis of Walker-Warburg syndrome in three sibs

✍ Gasser, B.; Lindner, V.; Dreyfus, M.; Feidt, X.; Leissner, P.; Treisser, A.; Sto 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 2 views

Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterized by diffuse neurodysplasia, resulting in brain and eye abnormalities. We report on 3 prenatally diagnosed cases of this syndrome born to a consanguineous couple. An ultrasonographic examination showed hydrocephalus at th

Postaxial polydactyly, ulnar ray dysgene

Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs

✍ Kaplan, Bernard S.; Bellah, Richard D. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 1 views

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 brothe

Agnathia-holoprosencephaly-situs inversu

Agnathia-holoprosencephaly-situs inversus

✍ �zden, Sel�uk; Fi�icio?lu, Cem; Kara, Mustafa; Oral, �zay; Bilgi�, Remziye 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 1 views

The first case of agnathia-holoprosencephaly and situs inversus totalis was reported by Leech et al. [1988]. Subsequent cases were reported by Robinson and Lenke [1989], Meinecke et al. [1990], and Persuette et al. [1990]. A 22-year-old, primigravid woman at 26 weeks of gestation was referred for p

Situs inversus with hypertrophic cardiom

Situs inversus with hypertrophic cardiomyopathy in identical twins

✍ Agirbasli, Mehmet; Hamid, Rizwan; Jennings, Henry S.; Tiller, George E. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB

We describe identical twin sisters born to nonconsanguineous, healthy parents. Both twins had situs viscerum inversus and developed hypertrophic cardiomyopathy in adulthood.