title: Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance.
abstract: We present further evidence for autosomal recessive inheritance of the bilateral tibial agenesis/ectrodactyly dysostosis. A consanguineous Turkish couple gave birth to three children with malformations. The first, a boy, died neonatally of pulmonary hypertension with congenital alveolar capillary dysplasia and also had tibial agenesis and ectrodactyly. A second child, a girl, died after birth with the same abnormality of the lungs without skeletal malformations. After the birth of three unaffected children, echographic examination at 15 weeks of gestation in the sixth pregnancy documented agenesis of tibiae and symmetrical ectrodactyly of hands and feet. Autopsy did not show additional malformations, and lung development was normal for gestational age. This observation also confirms the autosomal recessive inheritance pattern of congenital alveolar capillary dysplasia.
authors.affiliation: Department of Obstetrics and Gynecology, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium.
authors.forename: I
authors.initials: I
authors.lastname: Witters
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: J
authors.initials: J
authors.lastname: Caudron
authors.forename: C
authors.initials: C
authors.lastname: Van Hole
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005333:Fetus / Q000002:abnormalities; D005808:Genes, Recessive / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal