Proximal symphalangism with "coarse" facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?

A 25-year-old man is described with short stature, moderate mental retardat ion, an abnormal facial appearance, a webbed neck, skeletal abnormalities i ncluding proximal symphalangism of bilateral second through fifth fingers, mixed hearing loss, and slowly progressive, sclerosing nephropathy, He was large at birth with generalized edema, more pronounced around the jaw, neck and the upper part of the body, but became short with increasing age, and currently measures 143 cm (-4.9 SD). He had intermittent proteinuria and sl owly progressive deterioration of the renal function. A biopsy of the left kidney showed global glomerular sclerosis with interstitial fibrosis, He wa s placed on maintenance peritoneal dialysis at age 17 years, and now on hem odialysis, His skeletal abnormalities included, in addition to proximal sym phalangism, stenosis of the cervical canal, scoliosis, brachydactyly of the hands, hypoplastic hip joints, and pes valgus, Other abnormalities noted w ere a communicating defects of the diaphragm (surgically corrected), bilate ral inguinal hernia and cryptorchidism. These clinical manifestations indic ate a hitherto undescribed combination of manifestations and nephropathy. ( C) 2001Wiley-Liss, Inc.