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
Serviço de Genética Médica, Centro Hospitalar de Coimbra, Coimbra, Portugal.
Am J Med Genet A. 2008 Nov 1;146A(21):2799-803. doi: 10.1002/ajmg.a.32489.
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 "tetra-amelia and lung hypo/aplasia syndrome" is a distinct autosomal recessive condition, with no identified gene thus far.
四肢发育不全是一种罕见的畸形，可能与其他异常有关，通常以常染色体隐性模式遗传。我们描述了一名非近亲结婚夫妇所生的胎儿，患有四肢发育不全、双侧唇腭裂和双侧肺发育不全，无其他异常。核型正常（46,XX），排除了早熟着丝粒分离。对WNT3、HS6ST1和HS6ST3进行分子分析后未发现突变。我们回顾了文献和鉴别诊断，以明确与四肢发育不全相关疾病的临床特征。本报告描述了第六个具有这种畸形模式的家族，并进一步证明“四肢发育不全和肺发育不全/发育不全综合征”是一种独特的常染色体隐性疾病，迄今为止尚未确定相关基因。
