Type 3 Pfeiffer syndrome with normal thumbs

American Journal of Medical Genetics
N C KerrR A Kaufman

Abstract

We report on a male infant with extremely shallow orbits, spontaneous luxation of the eyes out of the eyelids, hypoplastic midface, broad, medially rotated great toes, and respiratory distress due to severe bilateral posterior choanal stenosis. At 4 days he had open cranial sutures (both by palpation and radiological examination). Subsequent radiologic studies demonstrated: thickening of the skull base, vertebral anomalies, flattening of the olecranon fossae with dislocated radii, and triangular shape of the proximal phalanx of the first toes. Our patient had manifestations of type 3 Pfeiffer syndrome (PS). However, the finding of normal thumbs has not been reported in type 3 PS. Point mutations in fibroblast growth factor receptor-1 (FGFR1) and fibroblast growth factor receptor-2 (FGFR2) have been reported in familial and sporadic cases of PS, but were not found in this patient. Recognizing type 3 PS, despite variability in expression, is important for genetic counseling, prognosis, and decision-making regarding craniofacial surgery.

References

May 1, 1979·Ophthalmology·A S Grove
Apr 10, 1995·American Journal of Medical Genetics·M M Cohen
Mar 1, 1995·Human Molecular Genetics·U SchellH Ohashi
Feb 1, 1993·American Journal of Medical Genetics·M M Cohen
Apr 1, 1993·Annals of Plastic Surgery·P HeecktF Höpner

❮ Previous
Next ❯

Citations

Aug 26, 1998·American Journal of Medical Genetics·K W GrippE H Zackai

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.