SAETHRE-CHOTZEN SYNDROME WITH TRIGONOCEPHALY

被引：9

作者：

CRISTOFORI, G

FILIPPI, G

机构：

[1] UNIV TRIESTE,IST INFANZIA,CATTEDRA GENET MED,VIA ISTRIA 65,I-34137 TRIESTE,ITALY

[2] UNIV TRIESTE,IST INFANZIA,DIV NEUROPSICHIAT INFANTILE,I-34137 TRIESTE,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 05期

关键词：

ACROCEPHALOSYNDACTYLY; CRANIOSYNOSTOSIS; TRIGONOCEPHALY; SAETHRE-CHOTZEN SYNDROME;

D O I：

10.1002/ajmg.1320440516

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 20-month-old boy with skull malformations and motor delays. A diagnosis of Saethre-Chotzen syndrome was made in view of the clinical and neuroradiological signs. Other unusual findings were trigonocephaly and occipital dysplasia with medial schisis at the foramen occipitalis. The mother showed a mild expression of the syndrome.

引用

页码：611 / 614

页数：4

共 10 条

[1] A FAMILY WITH THE SAETHRE-CHOTZEN SYNDROME [J].

BIANCHI, E ;

ARICO, M ;

PODESTA, AF ;

GRANA, M ;

FIORI, P ;

BELUFFI, G .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 22 (04) :649-658

[2] A FAMILY STUDY OF CRANIOSYNOSTOSIS, WITH PROBABLE RECOGNITION OF A DISTINCT SYNDROME [J].

CARTER, CO ;

TILL, K ;

FRASER, V ;

COFFEY, R .

JOURNAL OF MEDICAL GENETICS, 1982, 19 (04) :280-285

[3]

Cohen M M Jr, 1979, Birth Defects Orig Artic Ser, V15, P13

[4]

HALL JG, 1989, HDB NORMAL PHYSICAL, P98

[5] AURALCEPHALOSYNDACTYLY - A NEW CRANIOSYNOSTOSIS SYNDROME OR A VARIANT OF THE SAETHRE-CHOTZEN SYNDROME [J].

LEGIUS, E ;

FRYNS, JP ;

VANDENBERGHE, H .

JOURNAL OF MEDICAL GENETICS, 1989, 26 (08) :522-524

[6] AN UNUSUAL TYPE OF ACROCEPHALOSYNDACTYLY WITH BILATERAL PARIETOOCCIPITAL ENCEPHALOCELE, MICROPENIS, AND SEVERE MENTAL-RETARDATION [J].

LORENZ, P ;

RUPPRECHT, E ;

TELLKAMP, H .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 36 (03) :265-268

[7]

MCKUSICK VA, 1986, MENDELIAN INHERITANC, P12

[8]

PANTKE C, 1975, BDOAS, V9, P190

[9]

Pruzansky S, 1975, Birth Defects Orig Artic Ser, V11, P226

[10] PARIETAL FORAMINA IN SAETHRE-CHOTZEN SYNDROME [J].

THOMPSON, EM ;

BARAITSER, M ;

HAYWARD, RD .

JOURNAL OF MEDICAL GENETICS, 1984, 21 (05) :369-372

← 1 →