Question mark ears, temporo-mandibular joint malformation and hypotonia: auriculo-condylar syndrome or a distinct entity?

被引：24

作者：

Priolo, M

Lerone, M

Rosaia, L

Calcagno, EP

Sadeghi, AK

Ghezzi, F

Ravazzolo, R

Silengo, M

机构：

[1] Ist Giannina Gaslini, Med Genet Lab, Serv Med Genet, I-16148 Genoa, Italy

[2] Ist Giannina Gaslini, Serv Odontoiatry & Orthodonty, I-16148 Genoa, Italy

[3] Univ Genoa, Dept Oncol Biol & Genet, Genoa, Italy

[4] Univ Turin, Dept Pediat Sci & Adolescentol, I-10124 Turin, Italy

来源：

CLINICAL DYSMORPHOLOGY | 2000年 / 9卷 / 04期

关键词：

auriculo-condylar syndrome; question mark ear; condyle of the mandible; mild developmental delay; hypotonia;

D O I：

10.1097/00019605-200009040-00009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a boy with prominent, peculiarly malformed ears, abnormality of the ramus of the mandible and hypotonia. An isolated peculiar bilateral ear deformity named 'question mark ear' has been delineated in plastic reconstruction surgery reviews [Cosman et al., 1970 Plast Reconstr Surg 46:454-457; Cosman (1984) Plast Reconstr Surg 73:572-576; Takato ct al. (1989) Ann Plast Surg 22:69-73; Brodovsky (1997) Plast Reconstr Surg 100:1254-1257; Park (1998) Plast Reconstr Surg 101:1620-1623; Al-Quattan (1998) Plast Reconstr Surg 102:439-441] and a similar deformity of the ear and changes in the temporo-mandibular joint and condyle has been described by Jampol et al. [(1998) Am J Med Genet 75:449-452] and by Guion-Almeida et al. [(1999) Am J Med Genet 86:130-133]. The present case may be the third description of this malformation complex with additional clinical features characterized by hypotonia and mild developmental delay, or possibly a new distinct entity. Clin Dysmorphol 9: 277-280 (C) 2000 Lippincott Williams & Wilkins.

引用

页码：277 / 280

页数：4

共 12 条

[1] Cosman (Question mark) ear: Congenital auricular cleft between the fifth and sixth hillocks [J].