Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature.
OBJECTIVE
To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography.


METHODS
Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC syndrome with genitourinary anomalies and prenatal diagnosis was also reviewed.


RESULTS
A 6-cm cyst in the right side of abdominal cavity was detected in a fetus of 24 weeks' gestational age with severe oligohydramnios and hydrops fetalis. The autopsy revealed bilateral renal dysplasia with a large nephrogenic cyst at the right side and markedly hypoplastic urinary bladder and pulmonary hypoplasia. The fetus also had ectrodactyly and syndactyly of hands and feet and ectodermal dysplasia and left cleft lip and palate. Ultrastructure of hair from scanning electron microscopy revealed no obvious abnormality.


CONCLUSIONS
This is a rare case of fetal malformation partly detected prenatally. In order to detect this syndrome, careful ultrasound search for acral anomalies should be performed in cases with renal malformation or obstructive uropathy.
Chuangsuwanich
Tuenjai
T
Department of Pathology, Siriraj Hospital Faculty of Medicine, Mahidol University, Bangkok, Thailand. tuenjai_ch@yahoo.com
Sunsaneevithayakul
Prasert
P
Muangsomboon
Kobkun
K
Limwongse
Chanin
C
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000028:Abortion, Induced; D000328:Adult; D003560:Cysts / Q000150:complications / Q000000981:diagnostic imaging; D004476:Ectodermal Dysplasia / Q000150:complications; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D015160:Hydrops Fetalis / Q000150:complications / Q000000981:diagnostic imaging*; D007674:Kidney Diseases / Q000150:complications / Q000000981:diagnostic imaging*; D017880:Limb Deformities, Congenital / Q000150:complications; D008297:Male; D009056:Mouth Abnormalities / Q000150:complications*; D016104:Oligohydramnios / Q000150:complications / Q000000981:diagnostic imaging*; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal