Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosis.
We report on the unprecedented combination of two recessively inherited disorders, the kyphoscoliosis type of Ehlers-Danlos syndrome (EDS type VI) and cystic fibrosis (CF), in two sibs born to consanguineous Turkish parents. Because of failure to thrive and bronchitis CF was diagnosed in the index patient early whereas EDS VI was recognized only very late. Both patients had marked muscular hypotonia at birth, delayed gross motor development, progressive kyphoscoliosis, joint dislocations, Marfanoid habitus, hypertrophic and atrophic scars, and osteopenia. EDS VI was proven by collagen studies and the pathognomonic pattern of urinary pyridinolines. Because the genes coding for the two disorders are located on different chromosomes and a chromosomal rearrangement was excluded, we conclude that their combination is a chance association. The cardiopulmonary impairment common to both diseases makes the prognosis dismal.
Department of Pediatrics, University of Frankfurt, Germany.
A
A
Jarisch
C
C
Giunta
S
S
Zielen
R
R
König
B
B
Steinmann
D000596:Amino Acids / Q000652:urine; D003094:Collagen / Q000032:analysis; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis; D005260:Female; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D006901:Hydroxylysine / Q000378:metabolism; D007231:Infant, Newborn; D009679:Nuclear Family; D010375:Pedigree; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / Q000172:deficiency; D011379:Prognosis; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging; D014421:Turkey
D000596:Amino Acids; D006901:Hydroxylysine; C015484:pyridinoline; D003094:Collagen; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase