Article
Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.
American journal of medical genetics. Part A - 1 Nov 2008
Sousa Sérgio B, Pina Raquel, Ramos Lina, Pereira Naigel, Krahn Martin, Borozdin Wiktor, Kohlhase Jürgen, Amorim Marta, Gonnet Katia, Lévy Nicolas, Carreira Isabel M, Couceiro Ana Bela, Saraiva Jorge M
Abstract excerpt
Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded. No mutation was identified upon...
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