Bilateral tibial agenesis with ectrodactyly (OMIM 119100): Further evidence for autosomal recessive inheritance

We present further evidence for autosomal recessive inheritance of the bila teral tibial agenesis/ectrodactyly dysostosis. A consanguineous Turkish cou ple gave birth to three children with malformations. The first, a boy, died neonatally of pulmonary hypertension with congenital alveolar capillary dy splasia and also had tibial agenesis and ectrodactyly. A second child, a gi rl, died after birth with the same abnormality of the lungs without skeleta l malformations. After the birth of three unaffected children, echographic examination at 15 weeks of gestation in the sixth pregnancy documented agen esis of tibiae and symmetrical ectrodactyly of hands and feet. Autopsy did not show additional malformations, and lung development was normal for gest ational age. This observation also confirms the autosomal recessive inherit ance pattern of congenital alveolar capillary dysplasia. (C) 2001 Wiley-Lis s, Inc.