Antley‐Bixler syndrome in sisters: A term newborn and a prenatally diagnosed fetus

Abstract

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.

Antley-Bixler Syndrome, Description of Two New Cases and Review of the Literature

“…Autosomal recessive inheritance has been suggested since ABS has been observed three times in siblings and twice in offspring of consanguineous marriages [15]. However, interfamilial variety of expression of ABS has been well documented.…”

“…The main anomalies can be subdivided into 4 categories: craniofacial, skeletal, extremity and urogenital anomalies, as shown in table 1 [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 19, 30, 31, 32, 33, 34, 35]. …”

Antley-Bixler syndrome in a sister and brother

“…Seven patients with the syndrome have been described (Antley and Bixler, 1975;De Lozier et al, 1980;Robinson et al, 1982;Schinzel et al, 1983). Of these, five were sporadic, while the two patients reported by Schinzel et al (1983) were siblings. The first infant, a girl, died from respiratory failure on 14 days of life.…”

“…Its clinical features include craniosynostosis, midface hypoplasia, dysplastic ears, radiohumeral synostosis, contracture of joints, arachnodactyly, femoral bowing and femoral fractures. Of the seven patients so far described, five were sporadic while the other two (Schinzel et aL, 1983) were sisters. No consanguinity was noted in any of the parents.…”

Syndromic Craniosynostosis with Elbow Joint Contracture

“…From his phenotype, we might have diagnosed our patient as having atypical Crouzon syndrome; however, atypical Crouzon syndrome has not been strictly defined. Though his phenotype shares some features with Antley-Bixler syndrome, our patient lacks other typical characteristics of that syndrome, such as radiohumeral synostosis, long-bone fracture, and bowed femur [15]; moreover, Antley-Bixler syndrome is considered an autosomal recessive disease [16]. We did not consider a diagnosis of Pfeiffer syndrome because our patient lacks syndactyly, which is one of that syndrome’s characteristics.…”