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Thomas syndrome: Clinical variability and autosomal recessive inheritance

✍ Scribed by Briscioli, Vincenza; Lalatta, Faustina; Rizzuti, Tommaso; Fesslová, Vlasta

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
6 KB
Volume
71
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19970822)71:3<373::aid-ajmg23>3.0.co;2-g

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✦ Synopsis

The paper by prompted us to report the case of a family in which three children from a consanguineous marriage were affected by Thomas syndrome (Potter sequence with cleft lip/palate and cardiac anomalies). The parents were an Egyptian consanguineous couple who had had 3 pregnancies.

The first pregnancy was complicated by intrauterine death at the 20th week of gestation. The fetus, a female, presented with a cleft lip and palate. Autopsy was not performed.

The second pregnancy was characterized by small uterine volume for gestational age found at routine clinical examination from the 16th week on. The newborn male had cleft lip and palate and Potter sequence and died immediately after birth.

The third pregnancy, which was followed by our Unit, was complicated by oligohydramnios since the 16th week. Bilateral renal agenesis was documented by ultrasonography after infusion of 15 ml of saline intraperitoneally.

At the 18th week, cleft lip and palate and biventricular hypertropic cardiomyopathy was demonstrated on ultrasound examination. Parents asked for termination.

Autopsy confirmed the congenital anomalies detected in utero. Further anomalies were: dolichocephaly, high forehead, long, down

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