Short report
Two sibs with microcephaly, hygroma colli, renal dysplasia, and
cutaneous syndactyly: a new lethal MCA syndrome?
H C J P Janssena, C Schaapa, N Vandevijverb, P Moermanb, C E M de Die-Smuldersa, J-P Frynsc
a Department of
Molecular Cell Biology and Genetics, University of Limburg, PO Box
1475, 6201 BL Maastricht, The Netherlands, b Department of Pathology, University Hospital
Maastricht, The Netherlands, c Centre for Human Genetics, University Hospital
Leuven, Belgium
Correspondence to: Dr de Die-Smulders.
Received 9 April 1998;
Revised version accepted for publication 22 October 1998
We report two sibs of Turkish descent with multiple congenital
anomalies including severe microcephaly, hygroma colli, cystic renal
dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In
addition, the second sib presented with bilateral fusion of the
eyelids, a bicornuate uterus, and clitoromegaly. The parents are first
cousins, which suggests autosomal recessive inheritance. In reviewing
previously published reports, several cases were found with cerebral,
renal, and digital anomalies as the main features. Several of the
additional symptoms present in the second sib were suggestive of Fraser
syndrome, but the severe microcephaly in both sibs is unusual. The
differential diagnosis is discussed, including the possibility of an
entirely new entity in the broad spectrum of syndromes with cerebral,
renal, and digital anomalies.
Keywords: lethal MCA syndrome; microcephaly; cystic renal dysplasia; cutaneous syndactyly
© 1999 by J Med Genet
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