PT - JOURNAL ARTICLE AU - H C J P Janssen AU - C Schaap AU - N Vandevijver AU - P Moerman AU - C E M de Die-Smulders AU - J-P Fryns TI - Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? AID - 10.1136/jmg.36.6.481 DP - 1999 Jun 01 TA - Journal of Medical Genetics PG - 481--484 VI - 36 IP - 6 4099 - http://jmg.bmj.com/content/36/6/481.short 4100 - http://jmg.bmj.com/content/36/6/481.full SO - J Med Genet1999 Jun 01; 36 AB - 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.