PMID: 9188663Jun 13, 1997Paper

Severe Hajdu-Cheney syndrome with upper airway obstruction

American Journal of Medical Genetics
P A CrifasiV V Michels

Abstract

Hajdu-Cheney syndrome is an autosomal dominant disorder of acroosteolysis, skull deformities, characteristic facial abnormalities, osteoporosis, joint laxity, early loss of teeth, hearing loss, and a hoarse voice. We report on an 8 1/2-year-old boy with Hajdu-Cheney syndrome and cystic kidney disease, congenital heart disease, hydrocephalus, cleft lip and palate, hydrosyringomyelia, club feet, splenomegaly, hypospadias, vertebral anomalies, and upper airway obstruction. A review of 44 patients did not uncover any other patients with all of these manifestations, nor any patient with upper airway obstruction. Hajdu-Cheney syndrome appears to encompass a broader phenotype than previously recognized. The documentation of these additional anomalies is valuable because the findings of acroosteolysis and osteoporosis can present later in the course.

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Citations

Sep 10, 2013·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Shalini R Gupta, Rajiva Gupta
May 27, 2010·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·E VingerhoedtC Carels
May 18, 2017·Development·Jan Mašek, Emma R Andersson
Nov 15, 2006·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·F E McKiernan
Feb 8, 2013·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·W ZhaoM Mannstadt
May 9, 2001·American Journal of Medical Genetics·A M Brennan, R M Pauli
Aug 28, 2001·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·A StrassburgJ H Ehrich

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