We report on sisters with similar craniofacial anomalies, a brain malformation in the area of the posterior fossa, and a congenital heart defect. The craniofacial findings include macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, a depressed nasal bridge, narrow palate, and apparently low-set ears. Patient 1 had a Dandy-Walker malformation with communicating hydrocephalus, aplasia of the posterior portion of the cerebellar vermis, and high insertion of the confluent sinus, while in patient 2, a Dandy-Walker variant was found with aplasia of the cerebellar vermis and hypoplasia of the hemispheres, large cisterna magna, high insertion of the confluent sinus, but no hydrocephalus. Both sibs were moderately mentally retarded. The older sister had a complete atrio-ventricular canal and died after unsuccessful heart operation at 3 1/2 years. The younger had a successful operation on a cleft mitral valve and septum primum defect. Chromosomes were normal. The occurrence of a distinct and similar pattern of congenital anomalies in sisters born to healthy parents points toward a "new" syndrome caused by the homozygous state of an autosomal recessive gene.

Sisters with the Antley-Bixler syndrome are reported herein. The first infant died at 14 days of respiratory failure and the following findings characteristic of the syndrome: craniosynostosis of coronal and lambdoid sutures, brachycephaly, frontal bossing, severe midface hypoplasia with proptosis and choanal stenosis/atresia, humero-radial synostosis, medial bowing of ulnae, long slender fingers with camptodactyly, narrow iliac wings, anterior bowing of femora, cardiac and renal malformations. Unlike two previously published cases, she did not have connatal fractures, but she had vaginal atresia. Ultrasound examination in a subsequent pregnancy showed immobility at the elbows of the fetus, humero-radial synostosis, medial bowing of ulnae, and long hands and fingers. The fetus also had mild bowing of femora. The pregnancy was terminated in the 21st week and the findings were confirmed by clinical and radiologic examinations. Additional autopsy findings included cardiac and renal malformations. The Antley-Bixler syndrome is a recognizable malformation syndrome with a probable autosomal recessive mode of inheritance, which can be diagnosed in the fetus by midtrimester ultrasound examination.

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