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Title: Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance
Authors: Witters, Ingrid ×
Devriendt, Koenraad
Moerman, Philippe
Caudron, Jozef
Vanhole, Christine
Fryns, Jean-Pierre #
Issue Date: Dec-2001
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics vol:104 issue:3 pages:209-13
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.
URI: 
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Section Newborn (-)
Clinical Genetics
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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