New autosomal dominant syndrome reminiscent of Coffinhyphen;Siris syndrome and Brachymorphismhyphen;Onychodysplasiahyphen;Dysphalangism syndrome

Alison Elliott; Ahmad Teebi

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New autosomal dominant syndrome reminiscent of Coffinhyphen;Siris syndrome and Brachymorphismhyphen;Onychodysplasiahyphen;Dysphalangism syndrome

机译：New autosomal dominant syndrome reminiscent of Coffinhyphen;Siris syndrome and Brachymorphismhyphen;Onychodysplasiahyphen;Dysphalangism syndrome

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&NA;We report a man and his two daughters (one stillborn) with an apparently unique constellation of anomalies including fifth finger/toe terminal phalanx and nail hypoplasia. The craniofacial manifestations include large boxy head, round face, hypertelorism with downslanting palpebral fissures and wide mouth. Other manifestations include brachydactyly, fifth finger clinodactyly and ventricular septal defect. Intelligence is normal. The resemblance to Coffin‐Siris, Brachymorphism‐Onychodysplasia‐Dysphalangism and DOOR syndromes is discussed and we concluded that this family probably represents a new autosomal dominant syndrome.

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《clinical dysmorphology》 |2000年第1期|15-19|共页
作者
Alison Elliott; Ahmad Teebi;
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正文语种英语
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Coffinhyphen; Siris syndrome; Brachymorphismhyphen; Onychodysplasiahyphen; Dysphalangism syndrome; DOOR syndrome; autosomal dominant;

New autosomal dominant syndrome reminiscent of Coffinhyphen;Siris syndrome and Brachymorphismhyphen;Onychodysplasiahyphen;Dysphalangism syndrome

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