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.