Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?
Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?
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DOI：
10.1097/00019605-200101000-00002
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发表时间：
2001-01-01
影响因子：
0.7
通讯作者：
Abrams, L
中科院分区：
文献类型：
--
作者：
Lammer, EJ;Scholes, T;Abrams, L
我们报告了一种畸形模式，影响到7个兄弟姐妹中的5个，这些兄弟姐妹出生的阿富汗父母没有受到影响，他们是近亲。他们的前两个孩子死于青紫型先天性心脏病。两个在世的男性兄弟姐妹患有法洛四联症，主要影响语言技能的发育迟缓，以及短暂的眼睑裂隙或面中部发育不良。另一名男性患有交通性脑积水和过敏症。数量惊人的法乐四联症或其他青紫型先天性心脏缺陷的兄弟姐妹，以及父母的血缘关系，表明在这个家庭中有常染色体隐性遗传。虽然其他几个家系已被确认为明显的法洛四联症隐性遗传，但我们家系中的相关畸形提示了一种独特的、以前未报道的畸形模式。临床不良反应10：9-13(C)2001，Lippincott Williams&Wilkins.
We report a pattern of malformation affecting five of seven siblings born to unaffected Afghani parents who are first cousins. Their first two children died during infancy of cyanotic congenital heart defects. Two living male siblings have tetralogy of Fallot, developmental delay principally affecting language skills, and short palpebral fissures or midfacial hypoplasia. Another male has communicating hydrocephalus and hypertelorism. The striking number of siblings with tetralogy of Fallot, or another cyanotic congenital heart defect, and the parental consanguinity, suggests autosomal recessive inheritance in this family. While several other families have been identified with apparent recessive inheritance of tetralogy of Fallot, the associated malformations in our family suggest a unique, and previously unreported, malformation pattern. Clin Dysmorphol 10: 9-13 (C) 2001 Lippincott Williams & Wilkins.