HUM-MOLGEN DIAGnostics/Clinical Research

2 March 1998

Hi, I've just seen a 10 day old male with general features of an FGFR2 syndrome turrincephaly with proptosis and flattened midface, peaked palate, lowset ears, high webbing of hand digits 2/3 and complete cutaneous syndactyly of toes 2/3. He also has bilateral inguinal hernias. The features that do not fit this are a wide, notched nasal tip, hypertelorism, and bilaterally cleft upper eyelids.

He does not look like oculo-auriculo-vertebral/Goldenhar or Treacher Collins. (Globes are normal) He could have fronto-nasal dysplasia, but that wouldn't account for the syndactyly or turrincephaly. Easily his most striking features are the upper eyelids.

POSSUM has no reference. Easily available texts (Synd of Head and Neck, Smith's BDE have not given me any clues.

While my search is on-going, I'd appreciate any suggestions.

Angela E. Scheuerle, M.D.
Assistant Professor
Medical Genetics Department of Pediatrics
University of Texas - Houston