Autor(es):
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.
Data: 2008
Identificador Persistente: http://hdl.handle.net/10316/8440
Origem: Estudo Geral - Universidade de Coimbra
Descrição
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 molecular analysis of WNT3, HS6ST1, and HS6ST3. We reviewed the literature and the differential diagnosis to clarify the clinical delineation of conditions associated with tetra-amelia. The present report describes the sixth family with this pattern of malformations and reinforces the evidence that the ldquotetra-amelia and lung hypo/aplasia syndromerdquo is a distinct autosomal recessive condition, with no identified gene thus far. © 2008 Wiley-Liss, Inc. http://dx.doi.org/10.1002/ajmg.a.32489
