UNKNOWN SYNDROME - ISCHIADIC HYPOPLASIA, RENAL DYSFUNCTION, IMMUNODEFICIENCY, AND A PATTERN OF MINOR CONGENITAL-ANOMALIES

被引：17

作者：

BRAEGGER, C ^{[1
]}

BOTTANI, A ^{[1
]}

HALLE, F ^{[1
]}

GIEDION, A ^{[1
]}

LEUMANN, E ^{[1
]}

SEGER, R ^{[1
]}

WILLI, U ^{[1
]}

SCHINZEL, A ^{[1
]}

机构：

[1] UNIV ZURICH,DEPT PAEDIAT,CH-8006 ZURICH,SWITZERLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 01期

关键词：

D O I：

10.1136/jmg.28.1.56

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a 6 year old male with a pattern of malformations and anomalies including intrauterine growth retardation, microcephaly, psychomotor retardation, a pattern of craniofacial anomalies (flat face, hypertelorism, epicanthic folds, strabismus, short nose, low set ears), hypospadias and cryptorchidism, bilateral partial cutaneous syndactyly between fingers 2 to 5 and toes 2 to 4, postaxial polydactyly of the fingers and toes, severe conductive hearing loss, hypoplasia of the ischiadic bones, complex renal dysfunction, hypogammaglobulinaemia with proneness to bacterial infections of the upper and lower respiratory tract, and recurrent pseudomembranous enterocolitis. The parents are cousins of Turkish origin.

引用

页码：56 / 59

页数：4

共 5 条

[1] THE SMALL PATELLA SYNDROME A COMBINATION OF KNEE AND PELVIC DYSPLASIA [J].