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DIAGNOSTIC ECHOGRAPHIC FINDINGS IN CRYPTOPHTHALMOS SYNDROME (FRASER SYNDROME)
Author(s) -
FRYNS JEANPIERRE,
VAN SCHOUBROECK DOMINIQUE,
VANDENBERGHE KAMIEL,
NAGELS HERMAN,
KLERCKX PATRICK
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199706)17:6<582::aid-pd107>3.0.co;2-y
Subject(s) - renal agenesis , medicine , syndactyly , oligohydramnios , agenesis , renal dysplasia , differential diagnosis , pathology , anatomy , fetus , pregnancy , kidney , biology , urinary system , genetics
We report two male siblings with cryptophthalmos syndrome (Fraser syndrome), an autosomal recessive multiple malformation syndrome with cryptophthalmos, abnormal genitalia, and syndactyly of the fingers and toes as major clinical symptoms. Renal anomalies (uni‐ or bilateral agenesis) occur in 85 per cent. In the second trimester of both pregnancies (at 23·5 and 18·5 weeks, respectively), echographic examination revealed multiple anomalies: oligoamnios sequence and fetal hydrops with nuchal oedema. Contrasting with the oligohydramnios, the lungs were voluminous and hyperechogenic. Fetopathological examination revealed that the oligoamnios sequence was due to major renal abnormalities (bilateral renal agenesis in the first, and unilateral renal agenesis and contralateral multicystic renal dysplasia in the second sibling). Laryngeal substenosis had resulted in another malformation sequence consisting of overdistended lungs, and non‐immune fetal hydrops. The present experience shows that in the presence of an oligoamnios sequence with contrastingly voluminous, hyperechogenic lungs, the diagnosis of cryptophthalmos syndrome should seriously be considered in the differential diagnosis. © 1997 John Wiley & Sons, Ltd.