This 32 year-old G₂P₀ patient recently delivered a newborn that died elsewhere with multiple malformations. Typical images of the examination of the current pregnancy are shown below. During the examination the fetus did not move much and the flexion of the elbows remained constant. When the mother saw the 3D images (obtained with an Aloka SSD1700 Dynaview II), she said: "This baby is the same as my first baby !â€.

Note the exophtalmia/proptosis, the low nasal bridge, the alteration of the cranial contour at the level of the coronal suture (craniosynostosis)....

and in those beautiful 3D images, the micrognathia, brachycephaly, low set ears. Although this was not appreciable from the static images we also knew that the fetus kept his elbows in a flexed position, suggesting that this was a localized joint anomaly, not a generalized anomaly as would exist in the arthrogryposes.

The fetus survived 15 minutes. Note the chest hypoplasia.

Findings:

In this case the findings thus included: 

• exophtalmia/proptosis, 
• low nasal bridge, 
• craniosynostosis 
• micrognathia, 
• brachycephaly, 
• low set ears
• the abnormally fixed elbow
• the fact that this was probably an autosomal recessive disorder.

Many recognized that this baby"s most significant findings were the craniosynostosis and the abnormally fixed elbow. This suggested an anomaly of on the fibroblast growth factor receptor and indeed many suggested several of the disorder associated with these such as Crouzon, Aperts, Pfeiffer, Jackson-Weiss and several others.

Here are the strategies that several readers used:

Luc de Catte (Belgium) simply researched Smith"s Recognizable Patterns of Human Malformation for craniosynostosis  (p 711), prominent eyes (p 716) and elbow dysplasia (p743) to find the correct answer.

Luc Gourand (France) searched POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations) for dysmorphic face and radio-humeral synostosis.

Gary Kleinman (USA) found the diagnosis by searching OMIM with "elbow craniosynostosis" the following conditions are

*176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
*134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3
#101600 PFEIFFER SYNDROME
*207410 ANTLEY-BIXLER SYNDROME; ABS
#123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
148800 KLEEBLATTSCHAEDEL SYNDROME
*224690 EAR, PATELLA, SHORT STATURE SYNDROME
122470 CORNELIA DE LANGE SYNDROME 1; CDL1
#269000 SC PHOCOMELIA SYNDROME

Searching inside those articles for "elbow", Antley-Bixler syndrome is the one that emerge as the most likely.