Hypertelorism-Microtia-Clefting Syndrome (Bixler syndrome): report of two unrelated cases

被引：4

作者：

Amiel, J

Faivre, L

Marianowskl, R

Bonnet, D

Couly, G

Manach, Y

Le Merrer, M

Cormier-Daire, V

Munnich, A

Lyonnet, S

机构：

[1] Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

[2] Hop Necker Enfants Malad, Serv Otorhinolaryngol, F-75743 Paris, France

[3] Hop Necker Enfants Malad, Serv Cardiol Pediat, F-75743 Paris 15, France

[4] Hop Necker Enfants Malad, Serv Stomatol, F-75743 Paris 15, France

来源：

CLINICAL DYSMORPHOLOGY | 2001年 / 10卷 / 01期

关键词：

Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome); cleft lip and palate; deafness;

D O I：

10.1097/00019605-200101000-00003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The association of Hypertelorism, Microtia and Cleft lip and palate (HMC syndrome, MIM 239800) is a rare condition of autosomal recessive inheritance. A total of seven cases of HMC syndrome in five families have been hitherto reported. Here, we report two unrelated cases and put emphasis on the possible normal psychomotor development in this syndrome. Clin Dysmorphol 10: 15-18 (C) 2001 Lippincott Williams & Wilkins.

引用

页码：15 / 18

页数：4

共 10 条

[1] THE HYPERTELORISM MICROTIA CLEFTING SYNDROME [J].